Canonical Allele Identifier: CA2190326698
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152547T= , CM000677.2:g.80152547T= GRCh38
NC_000015.9:g.80444889T= , CM000677.1:g.80444889T= GRCh37
NC_000015.8:g.78231944T= NCBI36
NG_012833.1:g.4549T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+2T= ENSP00000453152.1:n.-30+2T=