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.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
376292
ClinVar RCV Id:
RCV000420521
ClinVar Variation Id:
376293
ClinVar RCV Id:
RCV000431213
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001365400.1:p.Asp550Glu |
CA16602740
NM_001378471.1:c.1650C>G
CA16602741
NM_001378471.1:c.1650C>A
|