ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825848240
Gene: PCDH15
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46495
ClinVar RCV Id:
RCV000039754
RCV001824285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136245.1:p.Leu1753_Cys1755del
CA138463
NM_001142773.2:c.5258_5266del