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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:
PA2825653480
Gene: LIFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
353616
ClinVar RCV Id:
RCV000299502
RCV003761932
RCV002523522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121143.1:p.Lys804Glu
CA3242674
NM_001127671.2:c.2410A>G