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: PA2826467721

Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 550184

ClinVar RCV Id: RCV000664855 RCV001835067 RCV003403535

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245261.1:p.Arg163Cys	CA5036218 NM_001258332.2:c.487C>T