ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830123679
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450114
ClinVar RCV Id:
RCV000523224
RCV000821262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Arg122His
CA3893597
NM_080645.3:c.365G>A