ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101358
Gene: SH3BP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7547
ClinVar RCV Id:
RCV000007983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116153.1:p.Pro418Leu
CA254206
NM_001122681.1:c.1253C>T