Canonical Allele Identifier: PA2828509138
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 21054
ClinVar RCV Id: RCV000020126 RCV000153218 RCV003445079
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361309.1:p.Gln64His
CA233966
NM_001374380.1:c.192G>T
CA393618043
NM_001374380.1:c.192G>C