ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA904086770
Gene:
Linked Data
dbSNP Id:
rs1374784064
gnomAD v3:
3-187931570-T-C
gnomAD v4:
3-187931570-T-C
MyVariant Identifiers:
chr3:g.187649358T>C (hg19)
chr3:g.187931570T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.187931570T>C , CM000665.2:g.187931570T>C
GRCh38
NC_000003.11:g.187649358T>C , CM000665.1:g.187649358T>C
GRCh37
NC_000003.10:g.189132052T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924814.1:n.1344A>G
Search 100 bp 5'
Search 100 bp 3'