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:
209138
ClinVar RCV Id:
RCV000191070
RCV000191068
RCV000415172
RCV000556194
RCV000479583
RCV000711233
RCV001753591
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000074.3:p.Phe167Leu |
CA276129
NM_000083.3:c.501C>G
CA369683698
NM_000083.3:c.499T>C
CA369683720
NM_000083.3:c.501C>A
|