ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825553551
Gene: PCDH19
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2430066
ClinVar RCV Id:
RCV003128031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001098713.1:p.Val506Ile
CA414002558
NM_001105243.2:c.1516G>A