ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825039715
Gene: BLM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Pro76Leu
CA7738264
NM_000057.4:c.227C>T