ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827092007
Gene: CAPN14
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308199.1:p.Leu241Phe
CA1597511
NM_001321270.2:c.721C>T