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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:
PA2828490166
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6171
ClinVar RCV Id:
RCV000006546
RCV000034811
RCV000384654
RCV001142702
RCV003472990
RCV004532300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358382.1:p.Arg17Cys
CA118026
NM_001371453.1:c.49C>T