ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825595848
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009009
RCV000009010
RCV000504541
RCV000516650
RCV000802118
RCV001533159
RCV002051776
RCV002415406
RCV003233067
ClinVar Variation:
8488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Thr665Met
CA119650
NM_001127222.2:c.1994C>T