ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499290429
Gene: SH3TC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1040016
ClinVar RCV Id:
RCV001343590
RCV002438789
RCV003136006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Ser1006Phe
CA3498876
NM_024577.4:c.3017C>T