ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA305909
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200862
ClinVar RCV Id:
RCV000182233
RCV003647759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gln477Leu
CA006465
NM_181798.1:c.1430A>T