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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:
PA118045
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6174
ClinVar RCV Id:
RCV000006550
RCV000521027
RCV000674245
RCV003472991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004319.1:p.Arg183Cys
CA118041
NM_004328.5:c.547C>T