ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326227
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53079
ClinVar RCV Id:
RCV000046098
RCV000057722
RCV001507784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ile77Met
CA007766
NM_181798.1:c.231C>G