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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:
PA2580203430
Gene: CPT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2094185
ClinVar RCV Id:
RCV002996991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317518.1:p.Asp255His
CA859044
NM_001330589.2:c.763G>C