ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825042088
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1737523
ClinVar RCV Id:
RCV002321442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Ala1357Ser
CA393851556
NM_000057.4:c.4069G>T