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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:
PA2828578674
Gene: CSF1R
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3005076
ClinVar RCV Id:
RCV003868203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362249.1:p.Ala299Val
CA3506991
NM_001375320.1:c.896C>T