ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658677024
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476548
ClinVar RCV Id:
RCV000534801
RCV003159938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Pro2205Thr
CA2188172
NM_004369.4:c.6613C>A