Canonical Allele Identifier: CA2629872485
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152571_80152574del , CM000677.2:g.80152571_80152574del GRCh38
NC_000015.9:g.80444913_80444916del , CM000677.1:g.80444913_80444916del GRCh37
NC_000015.8:g.78231968_78231971del NCBI36
NG_012833.1:g.4573_4576del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+26_-30+29del ENSP00000453152.1:n.-30+26_-30+29del