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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:
PA2827070292
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198988
ClinVar RCV Id:
RCV000180461
RCV000200469
RCV001251422
RCV002228800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308001.1:p.Thr157Met
CA275440
NM_001321072.1:c.470C>T