ClinGen Allele Registry
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Canonical Allele Identifier:
PA916074349
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000280277
RCV000790779
RCV002271401
RCV002498373
RCV003474672
ClinVar Variation:
92405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ser479Gly
CA220341
NM_024344.1:c.1435A>G