ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826176484
Gene: TMEM127
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486543
ClinVar RCV Id:
RCV000571217
RCV000685588
RCV003233749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180233.1:p.Arg197His
CA347652142
NM_001193304.3:c.590G>A