ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139736076
Gene: AAAS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056480.1:p.Val103Ala
CA6599265
NM_015665.6:c.308T>C