ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499295280
Gene: MMAB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1174001
ClinVar RCV Id:
RCV001527456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443077.1:p.Ser217Ile
CA386635775
NM_052845.4:c.650G>T