ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826146986
Gene: TMLHE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171726.1:p.Ser164Leu
CA10569524
NM_001184797.2:c.491C>T