ClinGen Allele Registry
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Canonical Allele Identifier:
PA095498
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000201202
RCV000725109
RCV001814107
RCV002500625
RCV003474972
ClinVar Variation:
217152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg572Trp
CA347588
NM_000070.3:c.1714C>T