Canonical Allele Identifier: CA2804915076
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152671dup , CM000677.2:g.80152671dup GRCh38
NC_000015.9:g.80445013dup , CM000677.1:g.80445013dup GRCh37
NC_000015.8:g.78232068dup NCBI36
NG_012833.1:g.4673dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+126dup ENSP00000453152.1:n.-30+126dup