Canonical Allele Identifier: PA2825042032
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 824434
ClinVar RCV Id: RCV001021534 RCV001832351
ClinVar Variation Id: 2139875
ClinVar RCV Id: RCV003052825
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Val1321Leu
CA393850893
NM_000057.4:c.3961G>C
CA393850897
NM_000057.4:c.3961G>T