×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828536641
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538718
ClinVar RCV Id:
RCV000648150
RCV003117454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361619.1:p.Arg640His
CA200798439
NM_001374690.1:c.1919G>A