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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:
CA2695237815
Gene: F8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154896072del , CM000685.2:g.154896072del
GRCh38
NC_000023.10:g.154124347del , CM000685.1:g.154124347del
GRCh37
NC_000023.9:g.153777541del
NCBI36
NG_011403.1:g.131652del
NG_011403.2:g.131652del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000360256.9:c.6429+5del
MANE Select
ENSP00000353393.4:n.6429+5del
ENST00000360256.8:c.6429+5del
ENSP00000353393.4:n.6429+5del
NM_000132.3:c.6429+5del
NP_000123.1:n.6429+5del
XM_011531126.1:c.6324+5del
XP_011529428.1:n.6324+5del
NM_000132.4:c.6429+5del
MANE Select
NP_000123.1:n.6429+5del
Search 100 bp 5'
Search 100 bp 3'