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: PA101659

Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 896

ClinVar RCV Id: RCV000000944

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000172.2:p.Ala354Val	CA339840 NM_000181.4:c.1061C>T