ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA305815
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52993
ClinVar RCV Id:
RCV000045999
RCV000057597
RCV000182199
RCV000621710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Met393Arg
CA005930
NM_181798.1:c.1178T>G