ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645461584
Gene: BFSP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
259089
ClinVar RCV Id:
RCV000245174
RCV000527125
RCV001711813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003562.1:p.Ala407Asp
CA2623483
NM_003571.4:c.1220C>A