ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828875130
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234899
ClinVar RCV Id:
RCV000213797
RCV001854764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366580.1:p.Asn272Ser
CA10577247
NM_001379651.1:c.815A>G