ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145694
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92393
ClinVar RCV Id:
RCV000078058
RCV000144575
RCV000568944
RCV000586013
RCV001824121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Pro868Leu
CA090891
NM_000057.4:c.2603C>T