Canonical Allele Identifier: PA916037371
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102600
ClinVar RCV Id: RCV000088841 RCV000664566 RCV002281929
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Arg53Cys
CA229445
NM_001354304.2:c.157C>T