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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:
PA2826194927
Gene: MATR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
859218
ClinVar RCV Id:
RCV001065282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001181884.1:p.Asp753del
CA128241063
NM_001194955.2:c.2257_2259del