ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826624227
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
384321
ClinVar RCV Id:
RCV000427470
RCV001066009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268392.1:p.Glu1038Lys
CA16608532
NM_001281463.1:c.3112G>A