ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825553529
Gene: PCDH19
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2126681
ClinVar RCV Id:
RCV003047412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001098713.1:p.Leu482Val
CA414002713
NM_001105243.2:c.1444C>G