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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:
PA2826814585
Gene: MTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14279
ClinVar RCV Id:
RCV000015349
RCV002482871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278869.1:p.Ile474del
CA257193
NM_001291940.1:c.1419_1421del