ClinGen Allele Registry
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Canonical Allele Identifier:
PA091605
Gene: ARSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000037.2:p.Phe399Leu
CA3318087
NM_000046.5:c.1197C>G
CA3318088
NM_000046.5:c.1195T>C
CA360338630
NM_000046.5:c.1197C>A