ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247016
Gene: BLM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Asn534Ser
CA247014
NM_000057.4:c.1601A>G