ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829029929
Gene: NBPF15
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2348379
ClinVar RCV Id:
RCV004187059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372371.1:p.Ala606Thr
CA1068836
NM_001385442.1:c.1816G>A