Canonical Allele Identifier: PA1139712222
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 863496
ClinVar RCV Id: RCV001070476
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly332Ser
CA10069953
NM_001848.3:c.994G>A