Canonical Allele Identifier: PA916037675
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102881
ClinVar RCV Id: RCV000089142 RCV000758112
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Leu288Phe
CA229828
NM_001354304.2:c.864G>C
CA386294437
NM_001354304.2:c.864G>T