Canonical Allele Identifier: PA105554
Gene: PAH HGNC NCBI
ClinVar Allele:
15648
ClinVar RCV:
RCV000000640
RCV000089024
ClinVar Variation:
609
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Glu221Gly
CA229677
NM_000277.3:c.662A>G