ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA243037
Gene: COL9A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
193330
ClinVar RCV:
RCV000176927
RCV001507016
ClinVar Variation:
196169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001843.1:p.Val526Met
CA243036
NM_001852.4:c.1576G>A