Canonical Allele Identifier: CA971893436
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152573_80152577del , CM000677.2:g.80152573_80152577del GRCh38
NC_000015.9:g.80444915_80444919del , CM000677.1:g.80444915_80444919del GRCh37
NC_000015.8:g.78231970_78231974del NCBI36
NG_012833.1:g.4575_4579del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+28_-30+32del ENSP00000453152.1:n.-30+28_-30+32del