ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828845318
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000498394
RCV001252528
RCV001338181
ClinVar Variation:
432565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366560.1:p.Val1029Ile
CA2207937
NM_001379631.1:c.3085G>A