ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580379208
Gene: CNPPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2311947
ClinVar RCV Id:
RCV004156275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056495.4:p.Thr331Ala
CA350650496
NM_015680.6:c.991A>G