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: PA2830150811

Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 284144

ClinVar RCV Id: RCV000339682

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.Ser2786Thr	CA10604703 NM_057167.4:c.8356T>A