ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211543
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67057
ClinVar RCV Id:
RCV000057641
RCV000148552
RCV000242195
RCV000859076
RCV001841677
RCV004542725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Thr473Met
CA006439
NM_181798.1:c.1418C>T