ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499289697
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1000333
ClinVar RCV Id:
RCV001296448
RCV002227269
RCV003145516
RCV003883173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Thr1359Ile
CA404339961
NM_023035.3:c.4076C>T