ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305823
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52994
ClinVar RCV Id:
RCV000046000
RCV000057599
RCV000182201
RCV004017349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Val397Gly
CA005943
NM_181798.1:c.1190T>G