ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139745323
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366567.1:p.Asp993Gly
CA68157158
NM_001379638.1:c.2978A>G