ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452217
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000314946
RCV000686362
RCV001267485
ClinVar Variation:
289751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Ala203Val
CA7511069
NM_000070.3:c.608C>T