ClinGen Allele Registry
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Canonical Allele Identifier:
PA915981104
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497680
ClinVar RCV Id:
RCV000597975
RCV000726712
RCV001835862
RCV002532383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Thr1013Ile
CA224841749
NM_001127180.2:c.3038C>T