ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074389
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92407
ClinVar RCV Id:
RCV000338313
RCV000790834
RCV003474673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg541Gln
CA220342
NM_024344.1:c.1622G>A