ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825138089
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
3051928
ClinVar RCV:
RCV003597939
ClinVar Variation:
2891786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Pro279Thr
CA386294537
NM_000277.3:c.835C>A