ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1129423007
Gene:
Linked Data
dbSNP Id:
rs1829779307
gnomAD v3:
9-129576891-G-A
gnomAD v4:
9-129576891-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576891G>A , CM000671.2:g.129576891G>A
GRCh38
NC_000009.11:g.132339170G>A , CM000671.1:g.132339170G>A
GRCh37
NC_000009.10:g.131378991G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1293G>A
Search 100 bp 5'
Search 100 bp 3'