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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825609097
Gene: NLRP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97966
ClinVar RCV Id:
RCV000084227
RCV000217712
RCV001078842
RCV002262695
RCV004529880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120934.2:p.Ala225Val
CA281339
NM_001127462.3:c.674C>T