ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095624
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000597389
RCV000673077
RCV002509457
RCV003471951
ClinVar Variation:
496915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Gly214Ser
CA7511089
NM_000070.3:c.640G>A