ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA321128
Gene: COL5A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
210129
ClinVar RCV:
RCV000196702
RCV003593934
ClinVar Variation:
213060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265003.1:p.Thr1631Arg
CA321126
NM_001278074.1:c.4892C>G