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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:
PA297171
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181526
ClinVar RCV Id:
RCV000159108
RCV000519096
RCV001286466
RCV003917545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031399.2:p.Glu13Ala
CA297169
NM_007373.4:c.38A>C