Canonical Allele Identifier: PA106860
Gene: PAH HGNC NCBI
ClinVar Allele:
15658
ClinVar RCV:
RCV000000650
RCV000088774
ClinVar Variation:
619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Val388Met
CA251543
NM_000277.3:c.1162G>A