ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139758034
Gene: CACNA1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Glu513Lys
CA9240794
NM_023035.3:c.1537G>A