ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825595613
Gene: CACNA1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Glu532Lys
CA16620797
NM_001127222.2:c.1594G>A