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