ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916066001
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
595915
ClinVar RCV Id:
RCV000731598
RCV001855660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Ala227Val
CA391998142
NM_173087.2:c.680C>T