ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA111257
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3140
ClinVar RCV Id:
RCV000003288
RCV000003289
RCV000057633
RCV000182223
RCV000622145
RCV000699476
RCV001258106
RCV001841227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly589Asp
CA006347
NM_000218.3:c.1766G>A