ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827738945
Gene: APBA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493155
ClinVar RCV Id:
RCV000585237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340724.1:p.Asn531Ser
CA391405615
NM_001353795.2:c.1592A>G