ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580153100
Gene: PNPLA6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003022393
ClinVar Variation:
2104031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159583.1:p.Val55Phe
CA403095955
NM_001166111.2:c.163G>T