ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2618501017
Gene:
Linked Data
gnomAD v4:
12-47972939-A-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.47972939A>G , CM000674.2:g.47972939A>G
GRCh38
NC_000012.11:g.48366722A>G , CM000674.1:g.48366722A>G
GRCh37
NC_000012.10:g.46652989A>G
NCBI36
NG_008072.1:g.36564T>C
Search 100 bp 5'
Search 100 bp 3'