ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827295998
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_001317218.1:p.Pro1427Leu
CA10612901
NM_001330289.2:c.4280C>T