ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645476407
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246454
ClinVar RCV Id:
RCV000236636
RCV000764388
RCV001068459
RCV000719157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230937.1:p.Asp1711Asn
CA2207170
NM_001244008.2:c.5131G>A