ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305589
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53095
ClinVar RCV Id:
RCV000057748
RCV000182106
RCV001258361
RCV001852977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Leu251Pro
CA008083
NM_000218.3:c.752T>C