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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:
PA2829492368
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2114854
ClinVar RCV Id:
RCV003042993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Ile496Ser
CA372684350
NM_004260.4:c.1487T>G