ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580104563
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2098865
ClinVar RCV Id:
RCV003031152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Ser699Asn
CA392001549
NM_000070.3:c.2096G>A