ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830425582
Gene: KRIT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360887
ClinVar RCV Id:
RCV000261141
RCV000369873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919436.1:p.Leu355Phe
CA4339222
NM_194454.3:c.1063C>T