ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580395319
Gene: SAMM50
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004146216
ClinVar Variation:
2291704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056195.3:p.Glu41Ala
CA411850095
NM_015380.5:c.122A>C