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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:
PA2828048176
Gene: RET
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2119874
ClinVar RCV Id:
RCV003059101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001342145.1:p.Leu519Arg
CA376555652
NM_001355216.1:c.1556T>G