ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645412124
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291537
ClinVar RCV Id:
RCV000282658
RCV000337630
RCV001859738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Thr406Ala
CA975103
NM_080629.3:c.1216A>G