ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326238
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
67756
ClinVar RCV:
RCV000046108
RCV000057735
RCV001841651
ClinVar Variation:
53088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ile108Asn
CA007935
NM_181798.1:c.323T>A