ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118645
Gene: BLMH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000377.1:p.Ile443Val
CA118644
NM_000386.4:c.1327A>G