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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:
CA32403094
Gene:
Linked Data
dbSNP Id:
rs1043400424
gnomAD v3:
1-169104032-G-T
gnomAD v4:
1-169104032-G-T
MyVariant Identifiers:
chr1:g.169073270G>T (hg19)
chr1:g.169104032G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.169104032G>T , CM000663.2:g.169104032G>T
GRCh38
NC_000001.10:g.169073270G>T , CM000663.1:g.169073270G>T
GRCh37
NC_000001.9:g.167339894G>T
NCBI36
NG_023230.1:g.2324G>T
Transcript Alleles
HGVS
Amino-acid change
XM_011510287.1:c.-1264G>T
XP_011508589.1:n.-1264G>T
Search 100 bp 5'
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