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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:
PA2828705376
Gene: ABCC9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379777
ClinVar RCV Id:
RCV000419299
RCV001042447
RCV004022321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364202.1:p.Asn1074Ser
CA6481186
NM_001377273.1:c.3221A>G