ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830425474
Gene: KRIT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919436.1:p.Arg16Cys
CA4339491
NM_194454.3:c.46C>T