ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA277905
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218432
ClinVar RCV Id:
RCV000203189
RCV002415864
RCV001842952
RCV003765309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Asn530Ser
CA034034
NM_181798.1:c.1589A>G