ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA339985
Gene: SH3TC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2478
ClinVar RCV Id:
RCV000002582
RCV000857152
RCV000998463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078853.2:p.Arg529His
CA339983
NM_024577.4:c.1586G>A