ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645488188
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237246
ClinVar RCV Id:
RCV000227249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000213.1:p.Thr523Ile
CA2923524
NM_000222.3:c.1568C>T