ClinGen Allele Registry
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Canonical Allele Identifier:
PA254500
Gene: CACNA1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Arg1346Gln
CA254496
NM_001174080.2:c.4037G>A