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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:
PA312231
Gene: ACADS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203561
ClinVar RCV Id:
RCV000185695
RCV001215716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000008.1:p.Gly369Ser
CA312230
NM_000017.4:c.1105G>A