ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829993381
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289785
ClinVar RCV Id:
RCV000304626
RCV003631113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Asn707Thr
CA10606548
NM_024344.1:c.2120A>C