ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800376
Gene: SH3PXD2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501675
ClinVar RCV Id:
RCV000591785
RCV000764589
RCV004024825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017995.1:p.Pro730Leu
CA3561020
NM_001017995.3:c.2189C>T