ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830024717
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289751
ClinVar RCV Id:
RCV000314946
RCV000686362
RCV001267485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ala203Val
CA7511069
NM_024344.1:c.608C>T