ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427643
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282113
ClinVar RCV Id:
RCV000270823
RCV001277330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Leu1954Val
CA6198859
NM_000260.4:c.5860C>G