ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA132307
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43224
ClinVar RCV Id:
RCV000036128
RCV000267119
RCV000371726
RCV000324036
RCV000665330
RCV001034155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Ile127Thr
CA132306
NM_000260.4:c.380T>C