ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827282634
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190717
ClinVar RCV Id:
RCV000170858
RCV000703877
RCV000852603
RCV003226235
RCV002399604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316989.1:p.Val475Ile
CA301823
NM_001330060.2:c.1423G>A