ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139744616
Gene: MBL2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015426
RCV000991134
RCV002274881
ClinVar Variation:
14352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365303.1:p.Arg52Cys
CA123885
NM_001378374.1:c.154C>T