ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068390124
Gene: SI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032.2:p.Val577Ala
CA355052434
NM_001041.4:c.1730T>C