ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829212593
Gene: SH3PXD2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001380944.1:p.Arg106Gln
CA5676300
NM_001394015.1:c.317G>A