ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106342
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
15660
ClinVar RCV:
RCV000000652
RCV000089061
ClinVar Variation:
621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Pro244Leu
CA229721
NM_000277.3:c.731C>T