ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139759772
Gene: CACNA1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Pro2053Leu
CA9239464
NM_023035.3:c.6158C>T