ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825089762
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456868
ClinVar RCV Id:
RCV000559784
RCV000764972
RCV004023761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Val215Gly
CA039326
NM_000218.3:c.644T>G