ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573071354
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001789812
ClinVar Variation:
1327550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ala434Val
CA16020990
NM_001354304.2:c.1301C>T