ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074292
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285470
ClinVar RCV Id:
RCV000345099
RCV000725670
RCV003463759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg437Cys
CA7511316
NM_024344.1:c.1309C>T