ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915982460
Gene: CAPN14
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138594.1:p.Leu417Phe
CA1597511
NM_001145122.2:c.1249C>T