ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA358895
Gene: TMLHE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060666.1:p.Asp244His
CA358894
NM_018196.4:c.730G>C