ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249284
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127493
ClinVar RCV Id:
RCV000203080
RCV000462198
RCV000561733
RCV000656777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Asn92Asp
CA249282
NM_000057.4:c.274A>G