ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830150878
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000493809
RCV001142819
RCV002063859
ClinVar Variation:
430329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ser2867Gly
CA2187327
NM_057167.4:c.8599A>G