ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827282689
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
417912
ClinVar RCV Id:
RCV000477754
RCV000588292
RCV000621687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316989.1:p.Arg517Trp
CA16616914
NM_001330060.2:c.1549C>T