ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254425
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000009012
RCV001390440
RCV001533163
ClinVar Variation:
8490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Ile1812Leu
CA254421
NM_001174080.2:c.5434A>C