ClinGen Allele Registry
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Canonical Allele Identifier:
PA305754
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000045957
RCV000057548
RCV000223836
RCV000735400
RCV000762835
RCV000851291
RCV001841623
RCV003162397
RCV003330078
RCV003335077
RCV003448253
ClinVar Variation:
52953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Lys235Arg
CA005223
NM_181798.1:c.704A>G