ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347883
Gene: MMAB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000203356
RCV002281067
RCV002517365
ClinVar Variation:
219006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443077.1:p.Arg191Gln
CA347882
NM_052845.4:c.572G>A