ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825847171
Gene: PCDH15
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1209589
ClinVar RCV Id:
RCV001578645
RCV001578646
RCV002573244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136245.1:p.Arg593Cys
CA5506245
NM_001142773.2:c.1777C>T