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: PA645487968

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405280

ClinVar RCV Id: RCV000467591 RCV001018190 RCV001821228

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Gly1011Arg	CA7738927 NM_000057.4:c.3031G>A CA393846675 NM_000057.4:c.3031G>C