ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326241
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53089
ClinVar RCV Id:
RCV000057736
RCV002371884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Leu112Pro
CA007953
NM_181798.1:c.335T>C