ClinGen Allele Registry
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Canonical Allele Identifier:
PA106732
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
108270
ClinVar RCV:
RCV000088767
RCV002259584
ClinVar Variation:
102534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Tyr377Cys
CA229357
NM_000277.3:c.1130A>G