ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825594943
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000415249
RCV000803741
RCV001753849
ClinVar Variation:
373933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg192Trp
CA16043551
NM_001127222.2:c.574C>T