ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063879595
Gene: MMEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_258428.2:p.Met518Thr
CA542373
NM_033467.4:c.1553T>C