ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825599025
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
388678
ClinVar RCV Id:
RCV000427955
RCV002522456
RCV003144262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Ala2257Thr
CA16608876
NM_001127222.2:c.6769G>A