ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825598916
Gene: CACNA1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg2227Leu
CA16620769
NM_001127222.2:c.6680G>T