ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111104
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53063
ClinVar RCV Id:
RCV000057694
RCV000148544
RCV000234794
RCV000505781
RCV000620835
RCV004542712
RCV001841648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly179Ser
CA007379
NM_000218.3:c.535G>A