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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:
PA092802
Gene: L2HGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1610
ClinVar RCV Id:
RCV000001677
RCV003398413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079160.1:p.Gly55Asp
CA115108
NM_024884.3:c.164G>A