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: PA2580110237

Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2120773

ClinVar RCV Id: RCV003059552

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Met872Leu	CA401793029 NM_000271.5:c.2614A>T CA401793030 NM_000271.5:c.2614A>C