ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827296738
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000487011
RCV000534578
RCV001251229
ClinVar Variation:
422067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Gly102Ser
CA16617512
NM_001330290.2:c.304G>A