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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:
PA2826326411
Gene: ACSF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2536715
ClinVar RCV Id:
RCV003271164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230208.1:p.Ala542Val
CA8238357
NM_001243279.3:c.1625C>T