ClinGen Allele Registry
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Canonical Allele Identifier:
PA645414216
Gene: SH3TC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
351912
ClinVar RCV Id:
RCV000293064
RCV000349658
RCV001094981
RCV001173887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Arg605His
CA3499117
NM_024577.4:c.1814G>A