ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830523901
Gene: LYSMD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997716.1:p.Val137Leu
CA29532829
NM_212551.5:c.409G>C