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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:
PA915967376
Gene: GALE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3675
ClinVar RCV Id:
RCV000003860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121093.1:p.Leu183Pro
CA340110
NM_001127621.2:c.548T>C