ClinGen Allele Registry
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Canonical Allele Identifier:
PA241879
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
192611
ClinVar RCV:
RCV000597464
RCV000798205
RCV003462280
ClinVar Variation:
195450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Leu712Phe
CA241878
NM_000070.3:c.2134C>T