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: PA2830152426

Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340372

ClinVar RCV Id: RCV000346561 RCV000387074 RCV000808997

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_478054.2:p.Asp712Tyr	CA10653709 NM_058174.3:c.2134G>T