ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144933
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67072
ClinVar RCV Id:
RCV000057674
RCV000494365
RCV000417071
RCV000468931
RCV000621525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Val14Met
CA007045
NM_181798.1:c.40G>A