ClinGen Allele Registry
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Canonical Allele Identifier:
PA151404
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
67753
ClinVar RCV:
RCV000057732
RCV000115009
RCV000182099
RCV001320480
RCV003335080
ClinVar Variation:
53085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly229Asp
CA007911
NM_000218.3:c.686G>A