ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326142
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057645
RCV000522648
RCV001105020
RCV001105021
RCV001106171
RCV001106172
RCV003996474
RCV004018945
ClinVar Variation:
53021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Leu492Met
CA006511
NM_181798.1:c.1474T>A