ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826106194
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000517121
RCV000764177
RCV001302457
RCV002316467
ClinVar Variation:
446939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Pro2147Leu
CA9239365
NM_001174080.2:c.6440C>T