ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828515233
Gene: DYM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1040617
ClinVar RCV Id:
RCV001344293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361364.1:p.Ser486Asn
CA402506482
NM_001374435.1:c.1457G>A