ClinGen Allele Registry
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Canonical Allele Identifier:
PA315360
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187855
RCV000678127
RCV000808224
RCV004020272
ClinVar Variation:
205866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Ser195Pro
CA315359
NM_172107.3:c.583T>C