ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830390056
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001934421
ClinVar Variation:
1439097
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Tyr188Asn
CA379132980
NM_181798.1:c.562T>A