ClinGen Allele Registry
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Canonical Allele Identifier:
PA645414328
Gene: SH3TC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234910
ClinVar RCV Id:
RCV000554390
RCV001155603
RCV001173195
RCV001155604
RCV001697251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Ala1121Val
CA3498758
NM_024577.4:c.3362C>T