Canonical Allele Identifier: PA916037366
Gene: PAH HGNC NCBI
ClinVar Allele:
108334
ClinVar RCV:
RCV000088838
ClinVar Variation:
102598
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala47Glu
CA229441
NM_001354304.2:c.140C>A