ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322281
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92405
ClinVar RCV Id:
RCV000280277
RCV000790779
RCV002271401
RCV002498373
RCV003474672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Ser431Gly
CA220341
NM_173087.2:c.1291A>G