ClinGen Allele Registry
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Canonical Allele Identifier:
PA916062485
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000853266
RCV003768630
ClinVar Variation:
692002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Leu243Val
CA409653983
NM_172109.3:c.727C>G