ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111015
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53145
ClinVar RCV Id:
RCV000057822
RCV000182310
RCV000586037
RCV001389796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Asp317Asn
CA008869
NM_000218.3:c.949G>A