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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:
PA645422866
Gene: SIM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421271
ClinVar RCV Id:
RCV000478425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005059.2:p.Lys708Arg
CA16618228
NM_005068.3:c.2123A>G