Canonical Allele Identifier: PA2830152094
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 284090
ClinVar RCV Id: RCV000293476 RCV000302628 RCV000383359 RCV001859591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478054.2:p.Asp438Asn
CA10071824
NM_058174.3:c.1312G>A