ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099352
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43294
ClinVar RCV Id:
RCV000036199
RCV000413954
RCV000844722
RCV000983988
RCV001273516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Arg1883Gln
CA278689
NM_000260.4:c.5648G>A