ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828320577
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43205
ClinVar RCV Id:
RCV000036109
RCV000725729
RCV001271745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Ser1124Tyr
CA132288
NM_001369365.1:c.3371C>A