ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828867700
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000554693
RCV001136789
RCV001697024
RCV001848938
RCV004541685
ClinVar Variation:
464253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366574.1:p.Arg1529Cys
CA2207376
NM_001379645.1:c.4585C>T