ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827561254
Gene: KRIT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450697
ClinVar RCV Id:
RCV000521974
RCV004023580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337605.1:p.Thr457Ala
CA368147183
NM_001350676.1:c.1369A>G