ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323918
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285728
ClinVar RCV Id:
RCV000328442
RCV001859629
RCV003475909
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Ala259Thr
CA7511827
NM_173088.2:c.775G>A