ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826624038
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2436144
ClinVar RCV Id:
RCV003136894
RCV003396913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268392.1:p.Gln588Arg
CA413252981
NM_001281463.1:c.1763A>G