ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573276122
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1433068
ClinVar RCV Id:
RCV001944237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Ala587Val
CA375506859
NM_020822.3:c.1760C>T