ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326205
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53065
ClinVar RCV Id:
RCV000057700
RCV001379025
RCV002223780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly59Arg
CA007440
NM_181798.1:c.175G>C