ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA306097
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53019
ClinVar RCV Id:
RCV000046032
RCV000057638
RCV000182324
RCV000620919
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg467Pro
CA006395
NM_181798.1:c.1400G>C