ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326321
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057807
RCV002513653
RCV003319314
ClinVar Variation:
53134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Thr184Ile
CA008752
NM_181798.1:c.551C>T