Canonical Allele Identifier: PA2825041397
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1797533
ClinVar RCV Id: RCV002439783
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Val970Leu
CA393846390
NM_000057.4:c.2908G>T
CA393846392
NM_000057.4:c.2908G>C