ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916065956
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217158
ClinVar RCV Id:
RCV000201041
RCV000729232
RCV003462350
RCV003330573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Leu189Pro
CA347491
NM_173087.2:c.566T>C