ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA142056
Gene: TMC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47860
ClinVar RCV Id:
RCV000041130
RCV000288900
RCV000350979
RCV000993331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619636.2:p.Met486Thr
CA142055
NM_138691.3:c.1457T>C