ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825924479
Gene: MBOAT7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003286855
ClinVar Variation:
2537997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139528.1:p.Val238Met
CA309346273
NM_001146056.3:c.712G>A