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: PA098547

Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 93953

ClinVar RCV Id: RCV000079892 RCV000224165 RCV000354637 RCV000990365 RCV002483139

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Glu106Lys	CA147502 NM_001849.4:c.316G>A