ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645414178
Gene: SH3TC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000487124
RCV004535517
ClinVar Variation:
421261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Tyr250del
CA16618137
NM_024577.4:c.748_750del