ClinGen Allele Registry
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Canonical Allele Identifier:
PA916074187
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282646
ClinVar RCV Id:
RCV000340129
RCV000490012
RCV001814143
RCV002271482
RCV003475896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg289Trp
CA7511150
NM_024344.1:c.865C>T