ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA305612
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000046124
RCV000057756
RCV000182113
RCV000709733
RCV001813753
RCV001814031
RCV001841653
RCV001843471
RCV002408548
ClinVar Variation:
53101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg259His
CA008184
NM_000218.3:c.776G>A