ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139680440
Gene: ASPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121557.1:p.Glu129Lys
CA8288909
NM_001128085.1:c.385G>A