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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:
CA2700460483
Gene:
Linked Data
dbSNP Id:
rs1688785087
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.127431577C>T , CM000664.2:g.127431577C>T
GRCh38
NC_000002.11:g.128189153C>T , CM000664.1:g.128189153C>T
GRCh37
NC_000002.10:g.127905623C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923313.1:n.1331+90G>A
XR_001739705.1:n.3607-3313G>A
XR_923313.2:n.4042+90G>A
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