ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829476216
Gene: SAP30
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003855.1:p.Pro55Leu
CA3140927
NM_003864.3:c.164C>T