ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA143902
Gene: ASB10
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001135931.2:p.Arg72His
NM_001142459.2:c.215G>A