ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573086823
Gene: CAPN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005177.2:p.Arg473Leu
CA6093432
NM_005186.3:c.1418G>T