ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2024154201
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.28045140G= , CM000674.2:g.28045140G=
GRCh38
NC_000012.11:g.28198073G= , CM000674.1:g.28198073G=
GRCh37
NC_000012.10:g.28089340G=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_931460.1:n.154-6182C=
Search 100 bp 5'
Search 100 bp 3'