ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305880
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53015
ClinVar RCV Id:
RCV000057634
RCV000182224
RCV000223805
RCV001852971
RCV001027732
RCV001841637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ala463Thr
CA006354
NM_181798.1:c.1387G>A