Canonical Allele Identifier: PA916054069
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285721
ClinVar RCV Id: RCV000305547 RCV000338896 RCV000406254 RCV001347096
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Pro111Leu
CA10071263
NM_058175.3:c.332C>T