ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091689
Gene: ASPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000040.1:p.Asp249Val
NM_000049.4:c.746A>T