ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825012371
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542820
ClinVar RCV Id:
RCV000653321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Glu1267Lys
CA404340598
NM_000068.4:c.3799G>A