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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:
PA2573088103
Gene: PROP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8104
ClinVar RCV Id:
RCV000008572
RCV000821200
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006252.4:p.Arg73Cys
CA340733
NM_006261.5:c.217C>T