ClinGen Allele Registry
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Canonical Allele Identifier:
PA916070393
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420055
ClinVar RCV Id:
RCV000485872
RCV000853325
RCV001851179
RCV002227166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Ser1804Leu
CA16620778
NM_023035.3:c.5411C>T