ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2056191932
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.95330153G= , CM000674.2:g.95330153G=
GRCh38
NC_000012.11:g.95723929G= , CM000674.1:g.95723929G=
GRCh37
NC_000012.10:g.94248060G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000636165.1:n.1058+10220C=
Search 100 bp 5'
Search 100 bp 3'