Canonical Allele Identifier: PA916037411
Gene: PAH HGNC NCBI
ClinVar Allele:
204456
ClinVar RCV:
RCV000190376
ClinVar Variation:
208180
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Thr81Asn
CA275937
NM_001354304.2:c.242C>A