ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099379
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438180
ClinVar RCV Id:
RCV000505169
RCV000666535
RCV001380427
RCV001542592
RCV001829440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Arg241Cys
CA6197223
NM_000260.4:c.721C>T