ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA132250
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43183
ClinVar RCV Id:
RCV000036087
RCV000286068
RCV000343328
RCV000404583
RCV000904369
RCV001831631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Arg816His
CA132249
NM_000260.4:c.2447G>A