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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:
CA370602757
Gene: NKX2-6
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr8:g.23560319C>G (hg19)
chr8:g.23702806C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.23702806C>G , CM000670.2:g.23702806C>G
GRCh38
NC_000008.10:g.23560319C>G , CM000670.1:g.23560319C>G
GRCh37
NC_000008.9:g.23616264C>G
NCBI36
NG_030636.1:g.8793G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000325017.4:c.551G>C
MANE Select
ENSP00000320089.3:p.Arg184Pro
ENST00000325017.3:c.551G>C
ENSP00000320089.3:p.Arg184Pro
NM_001136271.2:c.551G>C
NP_001129743.2:p.Arg184Pro
XR_001745842.1:n.1312+34056C>G
NM_001136271.3:c.551G>C
MANE Select
NP_001129743.2:p.Arg184Pro
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