ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828935244
Gene: PCDH15
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46434
ClinVar RCV Id:
RCV000039693
RCV000969899
RCV001105070
RCV001449930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371069.1:p.Leu347Phe
CA138356
NM_001384140.1:c.1039C>T