ClinGen Allele Registry
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Canonical Allele Identifier:
PA645414283
Gene: SH3TC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241504
ClinVar RCV Id:
RCV000233589
RCV001173825
RCV001332526
RCV001697618
RCV002436039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Arg997Gln
CA3498881
NM_024577.4:c.2990G>A