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: PA2580457391

Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2166304

ClinVar RCV Id: RCV003091692

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Arg1189Gln	CA6746118 NM_024312.5:c.3566G>A