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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:
PA2830155708
Gene: SP110
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334902
ClinVar RCV Id:
RCV000362881
RCV000455391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_536349.3:p.Met523Thr
CA2154463
NM_080424.4:c.1568T>C