ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA204979
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208161
ClinVar RCV Id:
RCV000191021
RCV000207040
RCV000997715
RCV003223396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004312.2:p.Arg216His
CA204977
NM_004321.8:c.647G>A