ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829531929
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1041104
ClinVar RCV Id:
RCV001344853
RCV001568426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Ala733Ser
CA9958107
NM_004518.5:c.2197G>T