ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326337
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53139
ClinVar RCV Id:
RCV000057815
RCV001387949
RCV002371888
RCV003156223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Tyr188Ser
CA008803
NM_181798.1:c.563A>C