ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916015975
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454087
ClinVar RCV Id:
RCV000553465
RCV001013273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Pro609Thr
CA7738589
NM_001287247.2:c.1825C>A