ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916053804
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
335130
ClinVar RCV Id:
RCV000353967
RCV001245096
RCV003137961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Arg890Cys
CA2189198
NM_057167.4:c.2668C>T