ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829531012
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000678171
ClinVar Variation:
369790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Pro401del
CA16609699
NM_004518.5:c.1201_1203del