ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828321765
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432663
ClinVar RCV Id:
RCV000497657
RCV001112405
RCV001112406
RCV001112407
RCV001275538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Thr2121Ile
CA6199098
NM_001369365.1:c.6362C>T