ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254452
Gene: CACNA1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Tyr1383Cys
CA254450
NM_001127222.2:c.4148A>G