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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:
PA2826440459
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6163
ClinVar RCV Id:
RCV000006538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244271.1:p.Ser277Asn
CA117984
NM_001257342.2:c.830G>A