ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827685
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
557219
ClinVar RCV Id:
RCV000673329
RCV001334333
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Ser1187Ile
CA381946947
NM_000260.4:c.3560G>T