ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826161301
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198474
ClinVar RCV Id:
RCV000179833
RCV001102151
RCV001102150
RCV003488432
RCV004539687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177638.1:p.Pro283Leu
CA247139
NM_001190709.2:c.848C>T