ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826740383
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485334
ClinVar RCV Id:
RCV000565340
RCV000628690
RCV001800791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Glu24Lys
CA7738481
NM_001287248.2:c.70G>A