Canonical Allele Identifier: PA658810593
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 542984
ClinVar RCV Id: RCV000653560 RCV003144451
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Asp561Asn
CA10070492
NM_001848.3:c.1681G>A