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: PA1139685849

Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 972571

ClinVar RCV Id: RCV001248633

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035957.1:p.Ser1331Arg	CA398994839 NM_001042492.3:c.3991A>C CA398994845 NM_001042492.3:c.3993C>A CA398994846 NM_001042492.3:c.3993C>G