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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:
PA645437872
Gene: NSD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422343
ClinVar RCV Id:
RCV000478715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071900.2:p.Ala1841Pro
CA16618180
NM_022455.5:c.5521G>C