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:
863914
ClinVar RCV Id:
RCV001070987
ClinVar Variation Id:
929213
ClinVar RCV Id:
RCV001194339
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000483.3:p.Lys684Asn |
CA368979443
NM_000492.4:c.2052A>C
CA368979447
NM_000492.4:c.2052A>T
|