ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827295554
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447653
ClinVar RCV Id:
RCV001143455
RCV000764394
RCV000530899
RCV002455993
RCV001544962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Pro1135Leu
CA2207702
NM_001330289.2:c.3404C>T