Canonical Allele Identifier: CA2629872745
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152762C>A , CM000677.2:g.80152762C>A GRCh38
NC_000015.9:g.80445104C>A , CM000677.1:g.80445104C>A GRCh37
NC_000015.8:g.78232159C>A NCBI36
NG_012833.1:g.4764C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+217C>A ENSP00000453152.1:n.-30+217C>A