ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645467806
Gene: ATP6V1E1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001687.1:p.Arg212Trp
CA16616867
NM_001696.4:c.634C>T