ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580223330
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003155771
ClinVar Variation:
2445852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ser439Gly
CA242743409
NM_001354304.2:c.1315A>G