Canonical Allele Identifier: PA295257
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162529
ClinVar RCV Id: RCV000149919 RCV000301615 RCV000762044 RCV001086949 RCV001265660
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ser879Gly
CA295255
NM_001848.3:c.2635A>G