ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322886
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000301610
RCV000725121
RCV003226273
RCV003463744
ClinVar Variation:
282681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Tyr671Cys
CA7511820
NM_173087.2:c.2012A>G