ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830425738
Gene: KRIT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1518169
ClinVar RCV Id:
RCV002041292
RCV002548896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919436.1:p.Val518Ala
CA4339090
NM_194454.3:c.1553T>C