ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828536222
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39434
ClinVar RCV Id:
RCV000032629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361619.1:p.Asn144Asp
CA211169
NM_001374690.1:c.430A>G