ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390917
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002601570
ClinVar Variation:
1915551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Pro503Thr
CA033609
NM_181798.1:c.1507C>A