Canonical Allele Identifier: PA105288
Gene: PAH HGNC NCBI
ClinVar RCV:
RCV000089014
ClinVar Variation:
102764
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Asn207Asp
CA229664
NM_000277.3:c.619A>G