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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:
PA2573061680
Gene: GLDC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1339567
ClinVar RCV Id:
RCV001824276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000161.2:p.Thr187Arg
CA372898347
NM_000170.3:c.560C>G