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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:
PA255716
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11099
ClinVar RCV Id:
RCV000011848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122306.1:p.Asp57Tyr
CA255715
NM_001128834.3:c.169G>T