ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830344409
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2912874
ClinVar RCV Id:
RCV003753757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Ile177Met
CA409654939
NM_172106.3:c.531C>G