ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827296996
Gene: KIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Ala250Ser
CA351303231
NM_001330290.2:c.748G>T