ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057571471
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005179734
ClinVar Variation:
3706389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Val51Ala
CA386302306
NM_001354304.2:c.152T>C