ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499239527
Gene: PCDH15
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1039546
ClinVar RCV Id:
RCV001343043
RCV001825891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136235.1:p.Pro1765_Pro1767del
CA5505083
NM_001142763.2:c.5293_5301del