Canonical Allele Identifier: CA2629872743
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152758C>G , CM000677.2:g.80152758C>G GRCh38
NC_000015.9:g.80445100C>G , CM000677.1:g.80445100C>G GRCh37
NC_000015.8:g.78232155C>G NCBI36
NG_012833.1:g.4760C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+213C>G ENSP00000453152.1:n.-30+213C>G