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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:
PA2826194611
Gene: MATR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1196920
ClinVar RCV Id:
RCV001560577
RCV001865974
RCV004536183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001181883.1:p.Ala751Thr
CA3433400
NM_001194954.2:c.2251G>A