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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:
PA2826901527
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
930478
ClinVar RCV Id:
RCV001196160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291933.1:p.Tyr3Cys
CA414102342
NM_001305004.1:c.8A>G