ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139755333
Gene: SH3TC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917195
ClinVar RCV Id:
RCV001173834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Leu988Met
CA3498886
NM_024577.4:c.2962C>A