ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827498764
Gene: SGIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337147.1:p.Pro247Ser
CA340689334
NM_001350218.2:c.739C>T