ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322492
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217152
ClinVar RCV Id:
RCV000201202
RCV000725109
RCV001814107
RCV002500625
RCV003474972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg524Trp
CA347588
NM_173087.2:c.1570C>T