ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825060633
Gene: COL5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1345121
ClinVar RCV Id:
RCV002034940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000084.3:p.Leu43Arg
CA375440327
NM_000093.5:c.128T>G