ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826736854
Gene: BLM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000628642
RCV002438627
ClinVar Variation:
524779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274175.1:p.His374Arg
CA7738468
NM_001287246.2:c.1121A>G