Canonical Allele Identifier: PA2826738914
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2845526
ClinVar RCV Id: RCV003614631
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Thr1350Ser
CA393851478
NM_001287246.2:c.4048A>T
CA393851483
NM_001287246.2:c.4049C>G