ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306044
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53115
ClinVar RCV Id:
RCV000046141
RCV000057774
RCV000182308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ser277Trp
CA008428
NM_000218.3:c.830C>G