Canonical Allele Identifier: PA916015625
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454089
ClinVar RCV Id: RCV000546483 RCV001013411
ClinVar Variation Id: 1058242
ClinVar RCV Id: RCV001367349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Asn62Lys
CA7738255
NM_001287247.2:c.186T>G
CA393839629
NM_001287247.2:c.186T>A