ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741887785
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2727350
ClinVar RCV Id:
RCV003526965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Tyr1915Phe
CA126983124
NM_001999.4:c.5744A>T