×
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:
PA2741873720
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2629122
ClinVar RCV Id:
RCV004529727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355794.1:p.Arg1178Leu
CA364761474
NM_001368865.1:c.3533G>T