ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830150720
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284096
ClinVar RCV Id:
RCV000312116
RCV000558809
RCV000725390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Thr2673Met
CA2187481
NM_057167.4:c.8018C>T