ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA110756
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3121
ClinVar RCV Id:
RCV000003269
RCV000057528
RCV000171124
RCV000619686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ala341Val
CA004897
NM_000218.3:c.1022C>T