ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827297192
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245928
ClinVar RCV Id:
RCV000236924
RCV001334229
RCV003765473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Tyr347Cys
CA10584195
NM_001330290.2:c.1040A>G