ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA098598
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
523382
ClinVar RCV:
RCV002234412
ClinVar Variation:
526898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly349Cys
CA162920757
NM_000089.4:c.1045G>T