Canonical Allele Identifier: PA2829529528
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573138
ClinVar RCV Id: RCV003315385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Phe104Leu
CA9958860
NM_004518.5:c.312C>G
CA409656546
NM_004518.5:c.312C>A
CA409656553
NM_004518.5:c.310T>C