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: PA2829327852

Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 966651

ClinVar RCV Id: RCV001241382

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val249Met	CA410523398 NM_001849.4:c.745G>A