Canonical Allele Identifier: CA2629872559
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152633_80152634del , CM000677.2:g.80152633_80152634del GRCh38
NC_000015.9:g.80444975_80444976del , CM000677.1:g.80444975_80444976del GRCh37
NC_000015.8:g.78232030_78232031del NCBI36
NG_012833.1:g.4635_4636del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+88_-30+89del ENSP00000453152.1:n.-30+88_-30+89del