ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825598629
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446939
ClinVar RCV Id:
RCV000517121
RCV001302457
RCV000764177
RCV002316467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Pro2144Leu
CA9239365
NM_001127222.2:c.6431C>T