Canonical Allele Identifier: CA2471091353
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.21312462T= , CM000686.2:g.21312462T= GRCh38
NC_000024.9:g.23474348T= , CM000686.1:g.23474348T= GRCh37
NC_000024.8:g.21883736T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437359.1:n.288+462T=