ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825089941
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2130527
ClinVar RCV Id:
RCV003044588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly316Ala
CA379132983
NM_000218.3:c.947G>C