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:
1997508
ClinVar RCV Id:
RCV002824042
ClinVar Variation Id:
2633056
ClinVar RCV Id:
RCV003397808
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000012.1:p.Met84Ile |
CA390303232
NM_000021.3:c.252G>A
CA390303235
NM_000021.3:c.252G>C
CA390303237
NM_000021.3:c.252G>T
|