ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830121143
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291535
ClinVar RCV Id:
RCV000275597
RCV000330638
RCV000494431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Arg360His
CA974978
NM_080630.4:c.1079G>A