ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826103955
Gene: CACNA1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Leu618Ser
CA404344850
NM_001174080.2:c.1853T>C