ClinGen Allele Registry
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Canonical Allele Identifier:
PA142054
Gene: TMC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000041129
RCV001561443
ClinVar Variation:
47859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619636.2:p.Asp47Glu
CA142053
NM_138691.3:c.141T>A
CA5081614
NM_138691.3:c.141T>G