Canonical Allele Identifier: PA2827107806
Gene: CNPPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308319.2:p.Gly138Arg
CA2117827
NM_001321390.2:c.412G>A
CA350654321
NM_001321390.2:c.412G>C