Canonical Allele Identifier: PA2573206170
Gene: PAH HGNC NCBI
ClinVar RCV:
RCV001897774
ClinVar Variation:
1384686
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gln235Lys
CA386296544
NM_001354304.2:c.703C>A