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: PA102550

Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371037

ClinVar RCV Id: RCV000412462 RCV004525924

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Glu1189Gly	CA8912726 NM_000271.5:c.3566A>G