ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214563
Gene: CACNA1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000709.1:p.Arg1389His
CA214562
NM_000718.4:c.4166G>A