ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828865130
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432631
ClinVar RCV Id:
RCV000639774
RCV000727144
RCV001848863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366571.1:p.Gln748Glu
CA2208136
NM_001379642.1:c.2242C>G