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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:
PA2825603360
Gene: ACADM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
593752
ClinVar RCV Id:
RCV000728881
RCV001379148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120800.1:p.Tyr356Asp
CA340818071
NM_001127328.3:c.1066T>G