ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328285
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67082
ClinVar RCV Id:
RCV000057699
RCV000779057
RCV003996517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly59Ser
CA007432
NM_181798.1:c.175G>A