Canonical Allele Identifier: PA916037502
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102727
ClinVar RCV Id: RCV000088976 RCV000669836 RCV003390790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Val177Leu
CA229610
NM_001354304.2:c.529G>C
CA386297003
NM_001354304.2:c.529G>T