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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:
PA2825838811
Gene: RNASEH2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1429938
ClinVar RCV Id:
RCV001939178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135751.1:p.Gly83Val
CA388258928
NM_001142279.2:c.248G>T