ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305601
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057750
RCV000057751
RCV000620025
ClinVar Variation:
53096
67104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Val254Leu
CA008134
NM_000218.3:c.760G>C
CA008142
NM_000218.3:c.760G>T