ClinGen Allele Registry
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Canonical Allele Identifier:
PA305876
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
197501
ClinVar RCV:
RCV000182222
RCV000234786
RCV002516854
ClinVar Variation:
200856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ile461Phe
CA006336
NM_181798.1:c.1381A>T