ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139760577
Gene: NLRP7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
893890
ClinVar RCV Id:
RCV001133107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996611.2:p.Ser505Phe
CA310017703
NM_206828.3:c.1514C>T