Canonical Allele Identifier: CA2629872547
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152627del , CM000677.2:g.80152627del GRCh38
NC_000015.9:g.80444969del , CM000677.1:g.80444969del GRCh37
NC_000015.8:g.78232024del NCBI36
NG_012833.1:g.4629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+82del ENSP00000453152.1:n.-30+82del