Canonical Allele Identifier: PA244790
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196952
ClinVar RCV Id: RCV000177843 RCV003631092
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly836Asp
CA244788
NM_001848.3:c.2507G>A