ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825688139
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_001123886.1:p.Asn519Ser
CA391405615
NM_001130414.1:c.1556A>G