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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:
PA2825935585
Gene: CANT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31018
ClinVar RCV Id:
RCV000024010
RCV000509573
RCV001380267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153245.1:p.Val226Met
CA129624
NM_001159773.2:c.676G>A