ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658754116
Gene: ARSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000037.2:p.Arg191Ter
NM_000046.5:c.571C>T