ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829531416
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000413758
RCV001377685
RCV002275019
RCV004530511
ClinVar Variation:
372677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Arg532Gln
CA16043113
NM_004518.5:c.1595G>A