ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828849836
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000359221
RCV000536756
RCV002244807
RCV002317846
ClinVar Variation:
335260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366562.1:p.Pro1501Leu
CA10612901
NM_001379633.1:c.4502C>T