ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA328309
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67097
ClinVar RCV Id:
RCV000057731
RCV000521709
RCV000821599
RCV002362691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala99Val
CA007880
NM_181798.1:c.296C>T