ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499229848
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1177444
ClinVar RCV:
RCV001544877
RCV002032550
RCV003298922
RCV003591880
ClinVar Variation:
1185948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg366Leu
CA379133861
NM_000218.3:c.1097G>T