ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830344728
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000678150
RCV001508894
ClinVar Variation:
369771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Phe304Ser
CA10654808
NM_172106.3:c.911T>C