Canonical Allele Identifier: PA2573295401
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1379157
ClinVar RCV Id: RCV001914780 RCV003490910
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ile626Thr
CA10072317
NM_058175.3:c.1877T>C