×
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:
PA2826854424
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2630446
ClinVar RCV Id:
RCV004527886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287828.1:p.Val413Ala
CA364759321
NM_001300899.2:c.1238T>C