ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645412154
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291526
ClinVar RCV Id:
RCV000317432
RCV000378977
RCV001409133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542196.2:p.Pro686Ser
CA974667
NM_080629.3:c.2056C>T