ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828970024
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2812174
ClinVar RCV Id:
RCV003639728
RCV004371664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372215.1:p.His485Asp
CA356906430
NM_001385286.1:c.1453C>G