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: PA2825304799

Gene: C1GALT1C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10792

ClinVar RCV Id: RCV000011539 RCV003974818

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001011551.1:p.Asp131Glu	CA121173 NM_001011551.3:c.393T>A CA414208974 NM_001011551.3:c.393T>G