ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400565
Gene: CAPN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004046.2:p.Arg289Trp
CA10603137
NM_004055.5:c.865C>T