Canonical Allele Identifier: CA619266173
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1459465013

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152763_80152774dup , CM000677.2:g.80152763_80152774dup GRCh38
NC_000015.9:g.80445105_80445116dup , CM000677.1:g.80445105_80445116dup GRCh37
NC_000015.8:g.78232160_78232171dup NCBI36
NG_012833.1:g.4765_4776dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+218_-30+229dup ENSP00000453152.1:n.-30+218_-30+229dup