ClinGen Allele Registry
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Canonical Allele Identifier:
PA645414342
Gene: SH3TC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245766
ClinVar RCV Id:
RCV000236255
RCV000790211
RCV001064903
RCV002450724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Arg1171Leu
CA3498695
NM_024577.4:c.3512G>T