ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828321039
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
52424
ClinVar RCV:
RCV000036159
RCV000325844
RCV000384892
RCV000677317
RCV000950207
RCV001826549
ClinVar Variation:
43254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Thr1517Met
CA132345
NM_001369365.1:c.4550C>T