ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741981667
Gene: SH3TC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Pro387Leu
CA3499272
NM_024577.4:c.1160C>T