ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326340
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057817
RCV003531946
ClinVar Variation:
53141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Tyr188Phe
CA008817
NM_181798.1:c.563A>T