ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111814
Gene: KCNE1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119065
ClinVar Variation:
132653
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000210.2:p.Val47Phe
CA331916
NM_000219.5:c.139G>T