ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678168
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454129
ClinVar RCV Id:
RCV001018756
RCV000556376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Tyr1044Cys
CA7738942
NM_000057.4:c.3131A>G