ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580314861
Gene: IDI1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004499.2:p.Cys78Phe
CA375853580
NM_004508.4:c.233G>T