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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826731796
Gene: RNASEH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372197
ClinVar RCV Id:
RCV000412621
RCV001566031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273763.1:p.Val116Ile
CA1516262
NM_001286834.3:c.346G>A