ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741981553
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3026943
ClinVar RCV Id:
RCV003887336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Cys1420Phe
CA404339526
NM_023035.3:c.4259G>T