ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825553518
Gene: PCDH19
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2188556
ClinVar RCV Id:
RCV002620317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001098713.1:p.Ala477Val
CA414002740
NM_001105243.2:c.1430C>T