ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829530477
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
177432
ClinVar RCV:
RCV000153394
RCV000203603
RCV000636323
RCV002281562
RCV003315308
RCV003488401
ClinVar Variation:
167208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Thr274Met
CA278569
NM_004518.5:c.821C>T