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: PA102685

Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 268187

ClinVar RCV Id: RCV000258915 RCV000674176 RCV002252074

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Gly910Ser	CA8912990 NM_000271.5:c.2728G>A