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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:
PA915984337
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205801
ClinVar RCV Id:
RCV000187789
RCV002517869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056258.1:p.Gln1100Glu
CA315229
NM_015443.4:c.3298C>G