ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139754334
Gene: SH3TC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Ala528Val
CA3499154
NM_024577.4:c.1583C>T