Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825040748

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1780316

ClinVar RCV Id: RCV002404268

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Leu600Pro	CA393843869 NM_000057.4:c.1799T>C