ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA142074
Gene: TMC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47870
ClinVar RCV Id:
RCV000041140
RCV000344685
RCV000392033
RCV001575375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619636.2:p.Glu83del
CA142073
NM_138691.3:c.247_249del