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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:
PA2826185088
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493217
ClinVar RCV Id:
RCV000585345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180394.1:p.Asn334Tyr
CA399979729
NM_001193465.2:c.1000A>T