ClinGen Allele Registry
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Canonical Allele Identifier:
PA645470079
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000678166
RCV002058836
RCV003588620
ClinVar Variation:
369785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742107.1:p.Tyr374Cys
CA10654794
NM_172109.3:c.1121A>G