ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828886446
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2505563
ClinVar RCV Id:
RCV003234862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369164.1:p.Ala31Ser
CA409635789
NM_001382235.1:c.91G>T