ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA838949463
Gene:
Linked Data
dbSNP Id:
rs1417587859
MyVariant Identifiers:
chr7:g.46072633C>G (hg19)
chr7:g.46033035C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.46033035C>G , CM000669.2:g.46033035C>G
GRCh38
NC_000007.13:g.46072633C>G , CM000669.1:g.46072633C>G
GRCh37
NC_000007.12:g.46039158C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745203.1:n.1270-3583C>G
Search 100 bp 5'
Search 100 bp 3'