ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826151127
Gene: SH3KBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1415130
ClinVar RCV Id:
RCV001945472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171889.1:p.Leu336Met
CA10364455
NM_001184960.2:c.1006C>A