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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA414906159
Gene: F8
HGNC
NCBI
Linked Data
dbSNP Id:
rs2073023614
MyVariant Identifiers:
chrX:g.154132285C>A (hg19)
chrX:g.154904010C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154904010C>A , CM000685.2:g.154904010C>A
GRCh38
NC_000023.10:g.154132285C>A , CM000685.1:g.154132285C>A
GRCh37
NC_000023.9:g.153785479C>A
NCBI36
NG_011403.1:g.123714G>T
NG_011403.2:g.123714G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000360256.9:c.5894G>T
MANE Select
ENSP00000353393.4:p.Ser1965Ile
ENST00000360256.8:c.5894G>T
ENSP00000353393.4:p.Ser1965Ile
NM_000132.3:c.5894G>T
NP_000123.1:p.Ser1965Ile
XM_011531126.1:c.5789G>T
XP_011529428.1:p.Ser1930Ile
NM_000132.4:c.5894G>T
MANE Select
NP_000123.1:p.Ser1965Ile
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