ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA273929
Gene: LAMB3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000219.2:p.Arg569Ter
NM_000228.3:c.1705C>T