ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116025
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3132
ClinVar RCV Id:
RCV000003280
RCV000057600
RCV000182202
RCV000622131
RCV001851605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala398Thr
CA005949
NM_181798.1:c.1192G>A