ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829531644
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639127
ClinVar RCV Id:
RCV000791856
RCV001563651
RCV003432766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Ile615Leu
CA409639444
NM_004518.5:c.1843A>C