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:
21343
ClinVar RCV Id:
RCV000020510
ClinVar Variation Id:
245897
ClinVar RCV Id:
RCV000237037
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001352465.1:p.Asn395Lys |
CA341930
NM_001365536.1:c.1185C>A
CA10584167
NM_001365536.1:c.1185C>G
|