Canonical Allele Identifier: CA2629872630
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152662del , CM000677.2:g.80152662del GRCh38
NC_000015.9:g.80445004del , CM000677.1:g.80445004del GRCh37
NC_000015.8:g.78232059del NCBI36
NG_012833.1:g.4664del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+117del ENSP00000453152.1:n.-30+117del