ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827370518
Gene: PGAP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50503
ClinVar RCV Id:
RCV000043536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333326.1:p.Arg228Pro
CA5829883
NM_001346397.2:c.683G>C