ClinGen Allele Registry
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Canonical Allele Identifier:
PA252597
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3140
ClinVar RCV Id:
RCV000003288
RCV000003289
RCV000057633
RCV000182223
RCV000622145
RCV000699476
RCV001258106
RCV001841227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly462Asp
CA006347
NM_181798.1:c.1385G>A