ClinGen Allele Registry
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Canonical Allele Identifier:
PA105123
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
15630
ClinVar RCV:
RCV000000622
RCV000089059
RCV000624337
ClinVar Variation:
591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Arg243Gln
CA251531
NM_000277.3:c.728G>A