ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139730827
Gene: PCDH19
HGNC
NCBI
Linked Data
ClinVar Variation Id:
975469
ClinVar RCV Id:
RCV001252103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065817.2:p.Asp448Gly
CA414002935
NM_020766.3:c.1343A>G