ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827402539
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194305
ClinVar RCV Id:
RCV000174642
RCV000285979
RCV000380430
RCV000647647
RCV001078935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334631.1:p.Ala431Gly
CA240210
NM_001347702.2:c.1292C>G