Canonical Allele Identifier: PA275940
Gene: PAH HGNC NCBI
ClinVar RCV:
RCV000190377
ClinVar Variation:
208181
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Pro279Leu
CA275939
NM_000277.3:c.836C>T
CA645584082
NM_000277.3:c.836_837delinsTT