ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085875412
Gene: CACNA1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Arg192Pro
CA404351074
NM_000068.4:c.575G>C