ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111600
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3138
ClinVar RCV Id:
RCV000003286
RCV000046026
RCV000057632
RCV000182221
RCV000619349
RCV003319300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Thr587Met
CA006328
NM_000218.3:c.1760C>T