Canonical Allele Identifier: PA645400860
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291209
ClinVar RCV Id: RCV000281767 RCV000653567
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Phe250Leu
CA10069712
NM_001848.3:c.750C>A
CA410519690
NM_001848.3:c.748T>C
CA410519706
NM_001848.3:c.750C>G