ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA328268
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67073
ClinVar RCV Id:
RCV000057675
RCV000463475
RCV000489920
RCV000618499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr144Ala
CA007072
NM_000218.3:c.430A>G