ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828870927
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450382
ClinVar RCV Id:
RCV000522204
RCV000639770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366577.1:p.Pro1448Leu
CA68137691
NM_001379648.1:c.4343C>T