Canonical Allele Identifier: CA2629872755
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152769G>T , CM000677.2:g.80152769G>T GRCh38
NC_000015.9:g.80445111G>T , CM000677.1:g.80445111G>T GRCh37
NC_000015.8:g.78232166G>T NCBI36
NG_012833.1:g.4771G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+224G>T ENSP00000453152.1:n.-30+224G>T