ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580490558
Gene: MMEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_258428.2:p.Ala548Thr
CA542336
NM_033467.4:c.1642G>A