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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:
PA100151
Gene: CPT1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9069
ClinVar RCV Id:
RCV000009636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001867.2:p.Gly709Glu
CA340860
NM_001876.4:c.2126G>A