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: PA645508748

Gene: ALG6 HGNC NCBI

Linked Data

ClinVar Variation Id: 372732

ClinVar RCV Id: RCV000412711 RCV000504484

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_037471.2:p.Cys303del	CA16042321 NM_013339.4:c.908_910del CA340637536 NM_013339.4:c.909T>A