ClinGen Allele Registry
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Canonical Allele Identifier:
PA182439
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178496
ClinVar RCV Id:
RCV000155244
RCV000290561
RCV000386123
RCV000765019
RCV001034255
RCV001089552
RCV001274807
RCV001526687
RCV004019859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Ala2083Thr
CA182438
NM_000260.4:c.6247G>A