ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830347274
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651375
ClinVar RCV Id:
RCV000806722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Pro638Leu
CA9958174
NM_172108.3:c.1913C>T