Canonical Allele Identifier: PA2573238387
Gene: COL6A3 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro3082Leu
CA2187317
NM_004369.4:c.9245C>T