ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580347530
Gene: MASP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2408091
ClinVar RCV Id:
RCV004242110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006601.2:p.Val485Ile
CA586665
NM_006610.4:c.1453G>A