ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037588
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102809
ClinVar RCV Id:
RCV000089062
RCV002259591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Val245Met
CA229722
NM_001354304.2:c.733G>A