ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828970943
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41601
ClinVar RCV Id:
RCV000034506
RCV000460230
RCV001014978
RCV001147356
RCV001148290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372215.1:p.Ala750Thr
CA215590
NM_001385286.1:c.2248G>A