ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580493374
Gene: MMAB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443077.1:p.Ser244Leu
CA6778751
NM_052845.4:c.731C>T