ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074206
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000019183
RCV000417420
RCV003473107
ClinVar Variation:
17617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Pro319Leu
CA341474
NM_024344.1:c.956C>T