ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580116594
Gene: ATP2B2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001331.1:p.Val1076Ile
CA2253163
NM_001001331.3:c.3226G>A