Canonical Allele Identifier: PA215983
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56905
ClinVar RCV Id: RCV000050243 RCV000360603 RCV001083967 RCV000723507
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val117Ala
CA215981
NM_001848.3:c.350T>C