Canonical Allele Identifier: CA2629872749
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152764G>A , CM000677.2:g.80152764G>A GRCh38
NC_000015.9:g.80445106G>A , CM000677.1:g.80445106G>A GRCh37
NC_000015.8:g.78232161G>A NCBI36
NG_012833.1:g.4766G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+219G>A ENSP00000453152.1:n.-30+219G>A