ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645420926
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000417068
ClinVar Variation:
375594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Phe279Ile
CA16044372
NM_000218.3:c.835T>A