ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829993376
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000597464
RCV000798205
RCV003462280
ClinVar Variation:
195450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Leu706Phe
CA241878
NM_024344.1:c.2116C>T