ClinGen Allele Registry
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Canonical Allele Identifier:
PA916066109
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000665341
ClinVar Variation:
550563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Lys86del
CA617608109
NM_173088.2:c.257_259del