ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645392401
Gene: TMC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000221167
RCV000225028
RCV001782704
ClinVar Variation:
228408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619636.2:p.Ser647Pro
CA5082097
NM_138691.3:c.1939T>C