ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580401284
Gene: AP5S1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060817.1:p.Leu141Arg
CA408146111
NM_018347.3:c.422T>G