ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830323841
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281081
ClinVar RCV Id:
RCV000410341
RCV000723527
RCV002265720
RCV001824134
RCV002288958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Asp241Asn
CA7511784
NM_173088.2:c.721G>A