ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139719232
Gene: TECPR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055659.2:p.Val516Met
CA7357750
NM_014844.5:c.1546G>A