ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573071347
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1318171
ClinVar RCV:
RCV001789829
ClinVar Variation:
1327567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ala309Thr
CA16021003
NM_001354304.2:c.925G>A