ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828709163
Gene: COL9A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000251679
RCV000710922
ClinVar Variation:
258358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364218.1:p.Met534Val
CA3881803
NM_001377289.1:c.1600A>G