ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827293830
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426934
ClinVar RCV Id:
RCV000489169
RCV001057550
RCV001250737
RCV001568399
RCV003224875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Arg13Cys
CA351315932
NM_001330289.2:c.37C>T