Canonical Allele Identifier: PA645400690
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285632
ClinVar RCV Id: RCV000314929 RCV001088542
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val142Leu
CA10069562
NM_001848.3:c.424G>C
CA410516444
NM_001848.3:c.424G>T