ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA891857321
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
568388
ClinVar RCV Id:
RCV000688735
RCV001816703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006297.2:p.Ile1062Met
CA10420320
NM_006306.4:c.3186C>G