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:
252014
ClinVar RCV Id:
RCV000237764
ClinVar Variation Id:
441220
ClinVar RCV Id:
RCV000509386
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001182729.1:p.His415Gln |
CA10585596
NM_001195800.2:c.1245C>A
CA404089716
NM_001195800.2:c.1245C>G
|