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: PA102820

Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374167

ClinVar RCV Id: RCV000415070

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Leu684Phe	CA16043539 NM_000271.5:c.2050C>T