Canonical Allele Identifier: CA2135277441
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.48556315C= , CM000676.2:g.48556315C= GRCh38
NC_000014.8:g.49025518C= , CM000676.1:g.49025518C= GRCh37
NC_000014.7:g.48095268C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001750756.1:n.585-127072G=