ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA904086764
Gene:
Linked Data
dbSNP Id:
rs1253945846
gnomAD v3:
3-187931529-C-A
gnomAD v4:
3-187931529-C-A
MyVariant Identifiers:
chr3:g.187649317C>A (hg19)
chr3:g.187931529C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.187931529C>A , CM000665.2:g.187931529C>A
GRCh38
NC_000003.11:g.187649317C>A , CM000665.1:g.187649317C>A
GRCh37
NC_000003.10:g.189132011C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924814.1:n.1385G>T
Search 100 bp 5'
Search 100 bp 3'