ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452199
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480853
RCV000528940
RCV003476161
ClinVar Variation:
420001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Asn198Ser
CA7511066
NM_000070.3:c.593A>G