ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658825624
Gene: ARSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000037.2:p.Ile350Phe
CA360342947
NM_000046.5:c.1048A>T