ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827678
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
558167
ClinVar RCV Id:
RCV000674395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Tyr1017del
CA658822154
NM_000260.4:c.3049_3051del