ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139722179
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004312.2:p.Arg995His
CA2207848
NM_004321.8:c.2984G>A