ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828212185
Gene: ATP2B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353459.1:p.Asp173Gly
CA386127297
NM_001366530.1:c.518A>G