ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830425626
Gene: KRIT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919436.1:p.Ser467Leu
CA368146965
NM_194454.3:c.1400C>T