Canonical Allele Identifier: CA2629872477
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152563G>T , CM000677.2:g.80152563G>T GRCh38
NC_000015.9:g.80444905G>T , CM000677.1:g.80444905G>T GRCh37
NC_000015.8:g.78231960G>T NCBI36
NG_012833.1:g.4565G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+18G>T ENSP00000453152.1:n.-30+18G>T