ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827741573
Gene: SH3KBP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001945472
ClinVar Variation:
1415130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340821.1:p.Leu556Met
CA10364455
NM_001353892.2:c.1666C>A