ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827741267
Gene: SH3KBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2867083
ClinVar RCV Id:
RCV003700543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340820.1:p.Arg657Gln
CA412495343
NM_001353891.1:c.1970G>A