ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471945
Gene: KCNB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483295
ClinVar Variation:
421307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004966.1:p.Glu422Ala
CA16620933
NM_004975.4:c.1265A>C