ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741955132
Gene: CNPPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056495.4:p.Leu386Phe
CA350649582
NM_015680.6:c.1156C>T