Canonical Allele Identifier: PA658659296
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476411
ClinVar RCV Id: RCV000525237 RCV000733314 RCV002527929
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val460Ala
CA10070265
NM_001848.3:c.1379T>C