ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916056203
Gene: COL9A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357811
ClinVar RCV Id:
RCV000991647
RCV001375076
RCV002278615
RCV003950271
RCV003447524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_511040.2:p.Pro58Leu
CA3882594
NM_078485.4:c.173C>T