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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:
PA119671
Gene: LEPR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8521
ClinVar RCV Id:
RCV000009047
RCV000281795
RCV000348520
RCV000518727
RCV001668124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002294.2:p.Gln223Arg
CA119663
NM_002303.6:c.668A>G