Canonical Allele Identifier: CA2549273827
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152555C>T , CM000677.2:g.80152555C>T GRCh38
NC_000015.9:g.80444897C>T , CM000677.1:g.80444897C>T GRCh37
NC_000015.8:g.78231952C>T NCBI36
NG_012833.1:g.4557C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+10C>T ENSP00000453152.1:n.-30+10C>T