Canonical Allele Identifier: PA106420
Gene: PAH HGNC NCBI
ClinVar Allele:
15674
ClinVar RCV:
RCV000000667
RCV000088804
ClinVar Variation:
635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Pro407Leu
CA229402
NM_000277.3:c.1220C>T