ClinGen Allele Registry
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Canonical Allele Identifier:
PA315538
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000762354
RCV001302913
RCV002485271
RCV004020273
ClinVar Variation:
205936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Pro852Leu
CA315536
NM_172107.3:c.2555C>T