ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580358986
Gene: BLNK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003048701
ClinVar Variation:
2135600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037446.1:p.Asn441Tyr
CA377715064
NM_013314.4:c.1321A>T