ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826473920
Gene: BLNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1478872
ClinVar RCV Id:
RCV001990804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245369.1:p.Asp386Gly
CA377715094
NM_001258440.2:c.1157A>G