ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319442
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43228
ClinVar RCV Id:
RCV000036132
RCV001852746
RCV002482971
RCV003987336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.His122Tyr
CA278660
NM_001369365.1:c.364C>T