ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826106392
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197539
ClinVar RCV Id:
RCV000178595
RCV001315464
RCV002515266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Ser2249Phe
CA245766
NM_001174080.2:c.6746C>T