ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139753425
Gene: ARSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942002.1:p.Thr305Ile
CA3318148
NM_198709.3:c.914C>T