ClinGen Allele Registry
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Canonical Allele Identifier:
PA913193440
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629754
ClinVar RCV Id:
RCV001203576
RCV001574714
RCV001841958
RCV002440609
RCV002501006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ala370Val
CA027096
NM_000218.3:c.1109C>T