ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254491
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8510
ClinVar RCV Id:
RCV000009035
RCV000009036
RCV000157056
RCV001049766
RCV001804718
RCV002273923
RCV002345236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Ile1709Thr
CA254489
NM_001127221.2:c.5126T>C