ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322939
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17613
ClinVar RCV Id:
RCV000711017
RCV001814000
RCV003473106
RCV000020096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg677Gln
CA127306
NM_173087.2:c.2030G>A