ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645414205
Gene: SH3TC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418488
ClinVar RCV Id:
RCV000484690
RCV000792222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Arg529Cys
CA3499152
NM_024577.4:c.1585C>T