ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827564705
Gene: KRIT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1770664
ClinVar RCV Id:
RCV002383321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337617.1:p.Arg452Cys
CA368147339
NM_001350688.1:c.1354C>T