ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476285
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432401
ClinVar RCV Id:
RCV000498449
RCV000814577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230937.1:p.Ala1216Thr
CA2207710
NM_001244008.2:c.3646G>A