ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830511779
Gene: NLRP7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3200696
ClinVar RCV Id:
RCV004495579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996611.2:p.Leu504Pro
CA310017711
NM_206828.3:c.1511T>C