Canonical Allele Identifier: PA1139741926
Gene: PAH HGNC NCBI
ClinVar RCV:
RCV001093427
ClinVar Variation:
872776
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala49Asp
CA386302329
NM_001354304.2:c.146C>A