ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827052481
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30169
ClinVar RCV Id:
RCV000023087
RCV000235916
RCV000207102
RCV000690609
RCV004541014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307634.1:p.Thr99Met
CA212601
NM_001320705.2:c.296C>T