ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306121
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000182332
ClinVar Variation:
53097
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Val254_Phe256del
CA008107
NM_000218.3:c.760_768del