ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487843
Gene: BLM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000412038
RCV003168589
ClinVar Variation:
370566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Met1Thr