ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573060519
Gene: COL3A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000087408
ClinVar Variation:
101171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Gly183Cys
CA006945
NM_000090.4:c.547G>T