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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:
PA2825630981
Gene: ACSF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2165712
ClinVar RCV Id:
RCV003084512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120686.1:p.His4Arg
CA397133259
NM_001127214.4:c.11A>G