Canonical Allele Identifier: CA716102492
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1330438226

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152737dup , CM000677.2:g.80152737dup GRCh38
NC_000015.9:g.80445079dup , CM000677.1:g.80445079dup GRCh37
NC_000015.8:g.78232134dup NCBI36
NG_012833.1:g.4739dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+192dup ENSP00000453152.1:n.-30+192dup