ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449469
Gene: CACNA1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001120693.1:p.Arg1349Trp
NM_001127221.2:c.4045C>T