ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA185301
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179865
ClinVar RCV Id:
RCV000156665
RCV000664469
RCV001110523
RCV000979350
RCV001110522
RCV001110524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Lys515Gln
CA185300
NM_000260.4:c.1543A>C