ClinGen Allele Registry
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Canonical Allele Identifier:
PA645449570
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_001120693.1:p.Ser1799Leu
CA16620778
NM_001127221.2:c.5396C>T