ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645455098
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
413594
ClinVar RCV:
RCV000487720
RCV000821173
RCV001731716
ClinVar Variation:
425260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Leu1223Pro
CA2189121
NM_004369.4:c.3668T>C