ClinGen Allele Registry
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Canonical Allele Identifier:
PA3087951760
Gene: KCNQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Ala473Thr
CA409646171
NM_004518.5:c.1417G>A