ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827299134
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Asp1590Glu
CA2207237
NM_001330290.2:c.4770C>G
CA2207238
NM_001330290.2:c.4770C>A