ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139679875
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
882708
ClinVar RCV Id:
RCV001112597
RCV001112598
RCV001112599
RCV002558125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Asp648Asn
CA381939095
NM_001127180.2:c.1942G>A