ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825041980
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
701143
ClinVar RCV Id:
RCV000869579
RCV003483746
RCV002363252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Glu1293Gly
CA7739152
NM_000057.4:c.3878A>G