Canonical Allele Identifier: PA2573206025
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1476195
ClinVar RCV Id: RCV001995430
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala49Val
CA386302327
NM_001354304.2:c.146C>T