ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA212614
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000149474
RCV000987077
RCV001267147
RCV001386834
RCV002273964
RCV002509246
ClinVar Variation:
162052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004312.2:p.Ser58Leu
CA212612
NM_004321.8:c.173C>T