ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1574372661
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.114513597C= , CM000667.2:g.114513597C=
GRCh38
NC_000005.9:g.113849294C= , CM000667.1:g.113849294C=
GRCh37
NC_000005.8:g.113877193C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_130785.1:n.343-17419G=
Search 100 bp 5'
Search 100 bp 3'