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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:
PA2828468019
Gene: SEMA4D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3060636
ClinVar RCV Id:
RCV003984615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358129.1:p.Ala327Thr
CA5118507
NM_001371200.1:c.979G>A