ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829530461
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000684929
ClinVar Variation:
565381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Gly271Asp
CA409653337
NM_004518.5:c.812G>A