ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825041490
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
970379
ClinVar RCV Id:
RCV001245944
RCV002281179
RCV002319682
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Met1026Val
CA7738938
NM_000057.4:c.3076A>G