Canonical Allele Identifier: CA2190326663
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041055224

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152535G>C , CM000677.2:g.80152535G>C GRCh38
NC_000015.9:g.80444877G>C , CM000677.1:g.80444877G>C GRCh37
NC_000015.8:g.78231932G>C NCBI36
NG_012833.1:g.4537G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-40G>C ENSP00000453152.1:n.-40G>C