ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827250690
Gene: PAK3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
545071
ClinVar RCV Id:
RCV000656290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311261.1:p.Leu468Arg
CA414240445
NM_001324332.2:c.1403T>G