ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110930
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057582
RCV000148551
RCV000224680
RCV000621439
RCV000764974
RCV001248784
RCV001841631
ClinVar Variation:
52980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Arg452Trp
CA005672
NM_000218.3:c.1354C>T