ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825520226
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Leu344Phe
CA10324753
NM_001085428.3:c.1030C>T