ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669077
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451126
ClinVar RCV Id:
RCV000658820
RCV001069420
RCV001333785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Pro2002Ser
CA9239507
NM_001127221.2:c.6004C>T