Canonical Allele Identifier: PA916037664
Gene: PAH HGNC NCBI
ClinVar Allele:
125883
ClinVar RCV:
RCV000106370
ClinVar Variation:
120289
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Pro281Ala
CA267678
NM_001354304.2:c.841C>G