ClinGen Allele Registry
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Canonical Allele Identifier:
PA915980860
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
517357
ClinVar RCV Id:
RCV000613132
RCV000710344
RCV001043882
RCV001110608
RCV001110609
RCV001110610
RCV001272496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg606His
CA6197622
NM_001127180.2:c.1817G>A