Allele Registry

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.

Canonical Allele Identifier: PA2499255674

Gene: ABCC9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1025040

ClinVar RCV Id: RCV001325302 RCV001797172 RCV002447374

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364203.1:p.Ile787Thr	CA384118352 NM_001377274.1:c.2360T>C