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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:
PA2828384993
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3065917
ClinVar RCV Id:
RCV003989372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357066.1:p.Asn1421Ser
CA377296566
NM_001370137.1:c.4262A>G