ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829579608
Gene: KRIT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004903.2:p.Val718Met
CA4338932
NM_004912.4:c.2152G>A