ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829624405
Gene: SMAD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
626886
ClinVar RCV Id:
RCV000770682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005893.1:p.Asn241_Phe248del
CA913191080
NM_005902.4:c.720_743del