ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115996
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000478.3:p.Pro379Leu
NM_000487.5:c.1136C>T