ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825114595
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522937
ClinVar RCV Id:
RCV000626134
RCV001350027
RCV001834981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Arg147Cys
CA6197128
NM_000260.4:c.439C>T