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: PA102978

Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2966

ClinVar RCV Id: RCV000003100 RCV000254671 RCV000321958 RCV000415371 RCV002512691 RCV003952339

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Pro1007Ala	CA340032 NM_000271.5:c.3019C>G