Canonical Allele Identifier: PA645420279
Gene: PAH HGNC NCBI
ClinVar RCV:
RCV000410352
ClinVar Variation:
371278
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Phe331Ser
CA16020915
NM_000277.3:c.992T>C