ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827725720
Gene: ATP2B2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2248563
ClinVar RCV Id:
RCV004111020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340493.1:p.Leu384Val
CA351784510
NM_001353564.1:c.1150C>G