ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827559257
Gene: KRIT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449499
ClinVar RCV Id:
RCV000524002
RCV001046152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337598.1:p.Ile138Thr
CA368162422
NM_001350669.1:c.413T>C