ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580520032
Gene: CAPN12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653292.2:p.Pro504Leu
CA308132702
NM_144691.4:c.1511C>T