ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830342239
Gene: CAMK2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493451
ClinVar RCV Id:
RCV000584951
RCV003962651
RCV004024658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742077.1:p.Ala511Thr
CA4240050
NM_172080.3:c.1531G>A