Canonical Allele Identifier: PA2826738170
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 568156
ClinVar RCV Id: RCV000688420 RCV002440434
ClinVar Variation Id: 3224365
ClinVar RCV Id: RCV004519091
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Arg1000Ser
CA393846589
NM_001287246.2:c.3000A>C
CA393846590
NM_001287246.2:c.3000A>T