ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573297953
Gene: TMC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1686765
ClinVar RCV Id:
RCV002248272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619636.2:p.Ala79Glu
CA5081623
NM_138691.3:c.236C>A