Allele Registry

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.

Canonical Allele Identifier: PA2825368466

Gene: NLRP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3200520

ClinVar RCV Id: RCV004495403

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001028225.1:p.Phe1216Leu	CA397389255 NM_001033053.3:c.3648C>G CA397389256 NM_001033053.3:c.3648C>A CA397389262 NM_001033053.3:c.3646T>C