ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA306047
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53145
ClinVar RCV Id:
RCV000057822
RCV000182310
RCV000586037
RCV001389796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Asp190Asn
CA008869
NM_181798.1:c.568G>A