ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580416101
Gene: TMEM127
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003104760
ClinVar Variation:
2415548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060319.1:p.Gln229Lys
CA347651122
NM_017849.4:c.685C>A