Canonical Allele Identifier: PA916054575
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 450934
ClinVar RCV Id: RCV000522324 RCV003517219
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Ser683Phe
CA410541331
NM_058175.3:c.2048C>T