ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830143013
Gene: MYLK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002345055
ClinVar Variation:
1748726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444260.1:p.Asp117Tyr
CA354228835
NM_053032.4:c.349G>T