ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825029039
Gene: ASPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
699687
ClinVar RCV Id:
RCV000867593
RCV001502206
RCV002509574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000040.1:p.Lys213Glu
CA8289002
NM_000049.4:c.637A>G