ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA172948
Gene: PCDH19
HGNC
NCBI
Linked Data
ClinVar Variation Id:
159556
ClinVar RCV Id:
RCV000147075
RCV000735393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001098713.1:p.Arg740Cys
CA172947
NM_001105243.2:c.2218C>T