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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:
PA322748
Gene: LRPPRC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214619
ClinVar RCV Id:
RCV000664807
RCV001354819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_573566.2:p.Asn196Thr
CA322747
NM_133259.4:c.587A>C