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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:
PA2830087661
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1373094
ClinVar RCV Id:
RCV001875032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116056.3:p.Thr221Ala
CA6053435
NM_032667.6:c.661A>G