ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828305539
Gene: AP1S2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1722221
ClinVar RCV Id:
RCV002295240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355937.1:p.Ala40Val
CA412459323
NM_001369008.1:c.119C>T