ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658660012
Gene: SH3TC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448370
ClinVar RCV Id:
RCV000517446
RCV000805465
RCV000754746
RCV000790335
RCV001814180
RCV003483649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Arg1171Cys
CA3498696
NM_024577.4:c.3511C>T