ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2491383590
Gene:
Linked Data
dbSNP Id:
rs1572413083
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16458152G>A , CM000664.2:g.16458152G>A
GRCh38
NC_000002.11:g.16639420G>A , CM000664.1:g.16639420G>A
GRCh37
NC_000002.10:g.16502901G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939752.1:n.396-3058C>T
Search 100 bp 5'
Search 100 bp 3'