ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111287
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53088
ClinVar RCV Id:
RCV000046108
RCV000057735
RCV001841651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ile235Asn
CA007935
NM_000218.3:c.704T>A