ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825012693
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001217912
ClinVar Variation:
946947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Val1459Met
CA404339250
NM_000068.4:c.4375G>A