ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326226
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53079
ClinVar RCV Id:
RCV000046098
RCV000057722
RCV001507784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ile204Met
CA007766
NM_000218.3:c.612C>G