ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254487
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8508
ClinVar RCV Id:
RCV000009033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Phe1406Cys
CA254482
NM_000068.4:c.4217T>G