ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645414321
Gene: SH3TC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246560
ClinVar RCV Id:
RCV000235844
RCV000473334
RCV002321909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Leu1056Phe
CA3498833
NM_024577.4:c.3166C>T