ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211517
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057694
RCV000148544
RCV000234794
RCV000505781
RCV000620835
RCV001841648
RCV004542712
ClinVar Variation:
53063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly52Ser
CA007379
NM_181798.1:c.154G>A