ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA120443652
Gene:
Linked Data
dbSNP Id:
rs999097666
gnomAD v3:
5-66487869-G-A
gnomAD v4:
5-66487869-G-A
MyVariant Identifiers:
chr5:g.65783697G>A (hg19)
chr5:g.66487869G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.66487869G>A , CM000667.2:g.66487869G>A
GRCh38
NC_000005.9:g.65783697G>A , CM000667.1:g.65783697G>A
GRCh37
NC_000005.8:g.65819453G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948381.1:n.649-48967G>A
Search 100 bp 5'
Search 100 bp 3'