Canonical Allele Identifier: CA2629872721
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152723_80152726del , CM000677.2:g.80152723_80152726del GRCh38
NC_000015.9:g.80445065_80445068del , CM000677.1:g.80445065_80445068del GRCh37
NC_000015.8:g.78232120_78232123del NCBI36
NG_012833.1:g.4725_4728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+178_-30+181del ENSP00000453152.1:n.-30+178_-30+181del