Canonical Allele Identifier: PA2580233730
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2111785
ClinVar RCV Id: RCV003046160
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361309.1:p.Asp123Glu
CA393619316
NM_001374380.1:c.369C>A
CA393619317
NM_001374380.1:c.369C>G