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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:
PA2828705625
Gene: ABCC9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
384013
ClinVar RCV Id:
RCV000426029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364202.1:p.Ile1469Met
CA16607190
NM_001377273.1:c.4407T>G