Canonical Allele Identifier: CA2629872748
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152774_80152785del , CM000677.2:g.80152774_80152785del GRCh38
NC_000015.9:g.80445116_80445127del , CM000677.1:g.80445116_80445127del GRCh37
NC_000015.8:g.78232171_78232182del NCBI36
NG_012833.1:g.4776_4787del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+229_-29-241del ENSP00000453152.1:n.-30+229_-29-241del