Canonical Allele Identifier: CA2190326655
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs11856087
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152531G>T , CM000677.2:g.80152531G>T GRCh38
NC_000015.9:g.80444873G>T , CM000677.1:g.80444873G>T GRCh37
NC_000015.8:g.78231928G>T NCBI36
NG_012833.1:g.4533G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-44G>T ENSP00000453152.1:n.-44G>T
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