ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827336422
Gene: ATP2B2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317540.1:p.Val542Met
CA2253579
NM_001330611.2:c.1624G>A