ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254475
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8504
ClinVar RCV Id:
RCV000009027
RCV000502832
RCV001533157
RCV001390632
RCV003150928
RCV002272012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Ser218Leu
CA254473
NM_001127221.2:c.653C>T