×
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:
PA2742001870
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2835553
ClinVar RCV Id:
RCV003687205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Pro931Thr
CA384541100
NM_033150.3:c.2791C>A