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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:
PA2826621539
Gene: SURF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2140848
ClinVar RCV Id:
RCV003056656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001267716.1:p.Glu114Gly
CA200832378
NM_001280787.1:c.341A>G