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: PA2741813950

Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2855152

ClinVar RCV Id: RCV003605342

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Ala927Gly	CA401792657 NM_000271.5:c.2780C>G