ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830068315
Gene: SH3KBP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003700543
ClinVar Variation:
2867083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114098.1:p.Arg632Gln
CA412495343
NM_031892.3:c.1895G>A