ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829337935
Gene: ATP2B2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001674.2:p.Val817Ile
CA2253330
NM_001683.5:c.2449G>A