ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA305588
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53095
ClinVar RCV Id:
RCV000057748
RCV000182106
RCV001258361
RCV001852977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Leu124Pro
CA008083
NM_181798.1:c.371T>C