ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825519830
Gene: ARSA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Asp68His
CA10325030
NM_001085428.3:c.202G>C