ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825317114
Gene: KRIT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001013424.1:p.Arg575His
CA4339005
NM_001013406.2:c.1724G>A