ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580372000
Gene: CAPN6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055104.2:p.Gln519Glu
CA10492916
NM_014289.4:c.1555C>G