ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828847094
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000219370
RCV000352933
RCV000509269
RCV000639800
ClinVar Variation:
234824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Ala610Val
CA2208262
NM_001379632.1:c.1829C>T