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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:
PA645407370
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
408316
ClinVar RCV Id:
RCV000464171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055689.1:p.Pro251Ser
CA16609868
NM_014874.4:c.751C>T