ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573060644
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449788
ClinVar RCV Id:
RCV000523803
RCV002279313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Glu448Lys
CA349851707
NM_000090.4:c.1342G>A