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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:
PA2826701351
Gene: ACADM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458788
ClinVar RCV Id:
RCV000543549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001272973.1:p.Asp156Val
CA913267
NM_001286044.2:c.467A>T