Canonical Allele Identifier: CA2518114014
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152493_80152494dup , CM000677.2:g.80152493_80152494dup GRCh38
NC_000015.9:g.80444835_80444836dup , CM000677.1:g.80444835_80444836dup GRCh37
NC_000015.8:g.78231890_78231891dup NCBI36
NG_012833.1:g.4495_4496dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-82_-81dup ENSP00000453152.1:n.-82_-81dup