ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580372184
Gene: TMEM50A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055128.1:p.Trp16Leu
CA694345
NM_014313.4:c.47G>T