ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827298775
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246243
ClinVar RCV Id:
RCV000236175
RCV000528862
RCV000853578
RCV001820787
RCV001848022
RCV002338772
RCV002487099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Thr1437Ile
CA2207398
NM_001330290.2:c.4310C>T