ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828319640
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
164664
ClinVar RCV Id:
RCV000151482
RCV000498129
RCV001291467
RCV001252672
RCV004528877
RCV001810427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Leu315Gln
CA278720
NM_001369365.1:c.944T>A