ClinGen Allele Registry
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Canonical Allele Identifier:
CA1036822802
Gene:
Linked Data - Sequence & Population
gnomAD v3:
2:136218685 T / A
gnomAD v4:
chr2-136218685-T-A
Linked Data - NCBI & NCI
dbSNP:
882300
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.136218685T>A , CM000664.2:g.136218685T>A
GRCh38
NC_000002.11:g.136976255T>A , CM000664.1:g.136976255T>A
GRCh37
NC_000002.10:g.136692725T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001739716.1:n.901+3549T>A
Search 100 bp 5'
Search 100 bp 3'