Canonical Allele Identifier: PA098386
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17180
ClinVar RCV Id: RCV000079828 RCV000180573 RCV000180574 RCV003314554 RCV003764606
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly284Arg
CA127115
NM_001848.3:c.850G>A
CA410521612
NM_001848.3:c.850G>C