ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825315526
Gene: LAMB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
295101
ClinVar RCV Id:
RCV000287198
RCV000948239
RCV003165799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017402.1:p.Arg556His
CA1375498
NM_001017402.2:c.1667G>A