ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825041382
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1797313
ClinVar RCV Id:
RCV002437938
RCV003102842
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Ala964Val
CA393846359
NM_000057.4:c.2891C>T