Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2741813958

Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2736698

ClinVar RCV Id: RCV003501731

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Met1142Ile	CA401791225 NM_000271.5:c.3426G>T CA401791226 NM_000271.5:c.3426G>C CA401791227 NM_000271.5:c.3426G>A