Canonical Allele Identifier: PA916037645
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 598
ClinVar RCV Id: RCV000000629 RCV000089111
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ser273Phe
CA229785
NM_001354304.2:c.818C>T