ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074388
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282677
ClinVar RCV Id:
RCV000294421
RCV000817085
RCV001535803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg541Gly
CA10604265
NM_024344.1:c.1621C>G