ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825597162
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000494232
RCV000764180
RCV001212290
RCV004023314
ClinVar Variation:
430288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Pro1137Arg
CA9240329
NM_001127222.2:c.3410C>G