ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830256849
Gene: NLRP12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653288.1:p.Ala1049Val
CA9638750
NM_144687.4:c.3146C>T