ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091682
Gene: ASPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188803
ClinVar RCV Id:
RCV000169134
RCV000587229
RCV002262764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000040.1:p.Ala287Thr
CA273981
NM_000049.4:c.859G>A