ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825317062
Gene: KRIT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1518169
ClinVar RCV Id:
RCV002041292
RCV002548896
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001013424.1:p.Val470Ala
CA4339090
NM_001013406.2:c.1409T>C