ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139694547
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
918598
ClinVar RCV Id:
RCV001176263
RCV001875804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Lys436Arg
CA349851638
NM_000090.4:c.1307A>G