ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829993544
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17613
ClinVar RCV Id:
RCV000711017
RCV001814000
RCV003473106
RCV000020096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg763Gln
CA127306
NM_024344.1:c.2288G>A