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:
550606
ClinVar RCV Id:
RCV000665394
ClinVar Variation Id:
2445714
ClinVar RCV Id:
RCV003155633
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001305754.1:p.Gln347His |
CA393061972
NM_001318825.2:c.1041G>T
CA393061973
NM_001318825.2:c.1041G>C
|