ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326194
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53057
ClinVar RCV Id:
RCV000057688
RCV001530975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Val46Asp
CA007313
NM_181798.1:c.137T>A