ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830347097
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
191609
ClinVar RCV:
RCV000724023
RCV000765493
RCV000781975
RCV001240137
RCV001527628
RCV002317007
RCV003315309
ClinVar Variation:
194446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Val512Met
CA240402
NM_172108.3:c.1534G>A