ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830390042
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000705141
ClinVar Variation:
581345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Thr185del
CA891843060
NM_181798.1:c.554_556del