ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826738859
Gene: BLM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274175.1:p.Pro1320Thr
CA393850881
NM_001287246.2:c.3958C>A