ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101341
Gene: SH3BP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7548
ClinVar RCV Id:
RCV000007984
RCV000486508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116153.1:p.Pro418Arg
CA254207
NM_001122681.1:c.1253C>G