ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827107817
Gene: CNPPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308319.2:p.Arg198Trp
CA2117755
NM_001321390.2:c.592C>T