ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827054067
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000236636
RCV000719157
RCV000764388
RCV001068459
ClinVar Variation:
246454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307634.1:p.Asp1619Asn
CA2207170
NM_001320705.2:c.4855G>A