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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:
PA278788
Gene: KDM1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218911
ClinVar RCV Id:
RCV000203273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055828.2:p.Tyr761His
CA278787
NM_015013.4:c.2281T>C