ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825627131
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_001120652.1:p.Thr1528Met
CA132345
NM_001127180.2:c.4583C>T