×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA097841
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17402
ClinVar RCV Id:
RCV000018946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Cys57Tyr
CA127185
NM_001844.5:c.170G>A