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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:
PA2825649214
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917374
ClinVar RCV Id:
RCV001174314
RCV001377596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121132.1:p.Ser231Cys
CA338438517
NM_001127660.2:c.692C>G