ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320825
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
378221
ClinVar RCV Id:
RCV000421377
RCV000665055
RCV000825981
RCV001273495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Ala1329Thr
CA6198288
NM_001369365.1:c.3985G>A