ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916070371
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000725882
RCV001069865
ClinVar Variation:
286691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Asp1730Asn
CA9239805
NM_023035.3:c.5188G>A