ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573215125
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366560.1:p.Pro1650Leu
CA2207259
NM_001379631.1:c.4949C>T