ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825598377
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_001120694.1:p.Pro2001Ser
CA9239507
NM_001127222.2:c.6001C>T