ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390663
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2886461
ClinVar RCV Id:
RCV003648767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Val389Ile
CA379138952
NM_181798.1:c.1165G>A