ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916065798
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282783
ClinVar RCV Id:
RCV000311426
RCV000489536
RCV003475897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Pro82Leu
CA10604293
NM_173087.2:c.245C>T