ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645511283
Gene: BLNK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037446.1:p.Arg372Trp
CA5623173
NM_013314.4:c.1114C>T