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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:
PA2826194686
Gene: MATR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14002
ClinVar RCV Id:
RCV000015039
RCV000517083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001181884.1:p.Ser85Cys
CA123688
NM_001194955.2:c.254C>G