ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145727
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92420
ClinVar RCV Id:
RCV000078102
RCV000346923
RCV000399161
RCV000710095
RCV001526791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Ala236Thr
CA145726
NM_000070.3:c.706G>A