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:
428899
ClinVar RCV Id:
RCV000492698
ClinVar Variation Id:
2848594
ClinVar RCV Id:
RCV003623190
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001119590.1:p.Lys125Asn |
CA397841873
NM_001126118.1:c.375G>T
CA397841890
NM_001126118.1:c.375G>C
|