ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827559768
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_001337600.1:p.Leu117Phe
CA4339222
NM_001350671.1:c.349C>T