Canonical Allele Identifier: CA2190327277
Gene: FAH HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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