×
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:
PA252138
Gene: MYH14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2200
ClinVar RCV Id:
RCV000002284
RCV000481506
RCV003407256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139281.1:p.Ser120Leu
CA252137
NM_001145809.2:c.359C>T