ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305816
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52993
ClinVar RCV Id:
RCV000045999
RCV000057597
RCV000182199
RCV000621710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Met520Arg
CA005930
NM_000218.3:c.1559T>G