ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916015814
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405307
ClinVar RCV Id:
RCV000460689
RCV001018434
RCV001821232
RCV003477941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Tyr296Cys
CA7738384
NM_001287247.2:c.887A>G