ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139676464
Gene: BSCL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116427.1:p.Gln335Pro
CA6053388
NM_001122955.4:c.1004A>C