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:
18137
ClinVar RCV Id:
RCV000019767
ClinVar Variation Id:
98029
ClinVar Variation Id:
3233284
ClinVar RCV Id:
RCV004525816
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000012.1:p.Met146Ile |
CA225023
NM_000021.3:c.438G>T
CA258121
NM_000021.3:c.438G>A
CA390305025
NM_000021.3:c.438G>C
|