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:
2753173
ClinVar RCV Id:
RCV003566754
ClinVar Variation Id:
2819950
ClinVar RCV Id:
RCV003706533
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001305991.1:p.Ala52Gly |
CA364105966
NM_001319062.2:c.155C>G
CA2739273020
NM_001319062.2:c.155_156delinsGT
|