ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA328382
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67128
ClinVar RCV Id:
RCV000057823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Asp190Tyr
CA008878
NM_181798.1:c.568G>T