Canonical Allele Identifier: PA2827107775
Gene: CNPPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2289529
ClinVar RCV Id: RCV004139536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308318.2:p.Leu289Pro
CA2117667
NM_001321389.2:c.866T>C