Canonical Allele Identifier: CA2629872659
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152674A>C , CM000677.2:g.80152674A>C GRCh38
NC_000015.9:g.80445016A>C , CM000677.1:g.80445016A>C GRCh37
NC_000015.8:g.78232071A>C NCBI36
NG_012833.1:g.4676A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+129A>C ENSP00000453152.1:n.-30+129A>C