ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580434153
Gene: KCNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2419221
ClinVar RCV Id:
RCV003112465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065873.2:p.Glu511del
CA467698382
NM_020822.3:c.1531_1533del