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: PA913194817

Gene: NPC1 HGNC NCBI

Linked Data

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_000262.2:p.Val246Ala