ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA148593
Gene: ATP6V0A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95521
ClinVar RCV Id:
RCV000081549
RCV000358680
RCV000538030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036595.2:p.Ala813Val
CA148592
NM_012463.4:c.2438C>T