Canonical Allele Identifier: CA2629872531
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152612_80152613del , CM000677.2:g.80152612_80152613del GRCh38
NC_000015.9:g.80444954_80444955del , CM000677.1:g.80444954_80444955del GRCh37
NC_000015.8:g.78232009_78232010del NCBI36
NG_012833.1:g.4614_4615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+67_-30+68del ENSP00000453152.1:n.-30+67_-30+68del