Canonical Allele Identifier: PA916037766
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 92727
ClinVar RCV Id: RCV000078498 RCV000150080 RCV002251963 RCV002514381 RCV003944994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu348Val
CA220576
NM_001354304.2:c.1042C>G